MPO Gene-Phenotype Associations Dataset (Archived)

Description Observed phenotypes of transgenic mice collected from mouse phenotyping studies
Measurement association by various assays depending on phenotype
Association gene-phenotype associations from phenotyping studies of knockout mice
Category disease or phenotype associations
Resource Mammalian Phenotype Ontology
Citation(s)
Last Updated 2015 Feb 09
Stats
  1. 7798 genes
  2. 8579 phenotypes
  3. 466673 gene-phenotype associations

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phenotype Gene Sets

8579 sets of gene mutations causing phenotypes in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Gene Set Description
absent metencephalon absence of the anterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain normally composed of the cerebellum and the pons Varolii
abnormal clitoris morphology any structural anomaly of the small, erectile body located at the anterior end of the vulva
abnormal male genitalia morphology any structural anomaly of the masculine organs of reproduction or generation, external or internal
abnormal lung volume anomaly in the amount of air that the lungs contain at various points of the respiratory cycle
abnormal basilar membrane morphology any structural anomaly in the membrane extending from the bony spiral membrane to the basilar crest of the cochlea; it forms the greater part of the floor of the cochlear duct separating the latter from the scala tympani, and it supports the organ of Corti
abnormal neural fold elevation formation any anomaly in the process by which the lateral borders of the neural plate begin to migrate upwards to form the neural folds, caused by the proliferation of the underlying mesoderm
abnormal sensory capabilities/reflexes/nociception inability or altered ability to respond to a sensory stimulus
hyperoxia elevated concentration of O2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases
abnormal behavioral response to anesthetic anomaly in the behavioral changes that follow exposure to an anesthetizing agent
increased brown fat cell size increase in the size of fat cells from the thermogenic form of adipose tissue
vestibular hair cell degeneration degeneration or loss of the sensory epithelial cells of the maculae and cristae of the membranous labyrinth of the inner ear which are normally in synaptic contact with the vestibular nerve
intraventricular block absent or delayed conduction within the ventricular conducting system or in the ventricular myocardium
increased cutaneous melanoma incidence greater than the expected number of a dark-pigmented, usually malignant tumor arising from a melanocyte in the skin, occurring in a specific population in a given time period
abnormal trigeminal ganglion morphology any structural anomaly of the group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve)
hairpin sperm flagellum a structural alteration where the sperm flagellum becomes bent back (folded) on itself to form a hairpin (loop) structure; a sharp hairpin-like bend formation can disrupt the axial structures and cause the sperm tail to become kinked
spleen vascular congestion obstruction of the normal flux of blood within the blood vessel network of the spleen
increased bone mineral density increase in the quatitative measurment value of mineral content of bone; BMD is used as an indicator of bone strength used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size
liver abscess The presence of an abscess of the liver.
abnormal auditory brainstem response waveform shape any anomaly in the characteristic pattern of electrical activity recording of a series of vertex positive waves generated by neurons in the ascending auditory system, that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts
abnormal retinal photoreceptor layer morphology any structural anomaly of the photoreceptor layer
delayed axon extension an increased amount of time required for an axon to extend from a neuron cell body and find the target
rheumatoid arthritis An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
intestinal/bowel diverticulum a pouch or sac protruding from the intestinal or bowel wall
retinal fibrosis invasion of fibrous connective tissue into the retina, often resulting from inflammation or injury
postaxial polydactyly
adipose tissue necrosis morphological changes resulting from pathological death of adipose tissue; usually due to irreversible damage
ovary atrophy acquired diminution of the size of the ovaries associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
increased mean corpuscular volume Larger than normal size of erythrocytes.
small endolymphatic duct reduced size of the small membranous canal which connects with both saccule and utricle of the membranous labyrinth, passes through the aqueduct of vestibule, and terminates in the endolymphatic sac
abnormal bradykinin level abnormal concentration of a potent, short-lived vasoactive peptide that causes arteriolar dilation and increased capillary permeability
abnormal fetal derived definitive erythrocyte cell number anomaly in the number of a fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins
decreased bone mineral density of femur reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
abnormal paravertebral ganglion morphology any structural anomaly of the groups of postsynaptic neurons located at intervals along the sympatheic trunk, including the superior cervical, middle cervical and stellate (cervicothoracic) ganglia as well as the thoracic, lumbar and sacral ganglia
absent cervical lymph nodes absence of the lymph nodes normally found near the neck and shoulders
abnormal nasal cavity morphology any structural anomaly of the portion of the respiratory tract that extends from the nares to the pharynx; the nasal cavity is lined with ciliated mucosa
d-loop transposition of the great arteries complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and the great arteries are parallel rather than crossing
abnormal primary sex determination aberrant gonadal development resulting in either abnormal or absent gonads or the development of gonads inconsistent with the chromosomal sex
abnormal hippocampus stratum lacunosum morphology
abnormal gallbladder morphology A structural anomaly of the gallbladder.
impaired neutrophil recruitment reduced diffusion or accumulation of neutrophils in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions
abnormal ectomesenchyme morphology any structural anomaly in the mesenchymal cells derived from neural crest cells that contribute to development of the hard and soft tissue in the head and neck, including the branchial arches
absent prechordal plate absence of the horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue
abnormal male urethra morphology any structural anomaly of the male fibromuscular tubular canal which extends from the internal urethral orifice in the urinary bladder to the external urethral orifice at the tip of the penis and provides an exit for urine as well as semen during ejaculation; the male urethra is longer than the urethra of females and comprises three major portions, the (i) prostatic, (ii) membranous (aka intermediate), and (iii) cavernous (aka spongy or penile)
abnormal bone marrow cell number increased or decreased number of cells that make up the core cavities of bones when compared to controls
partial embryonic lethality at implantation the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at the point of implantation (Mus: E4.5)
abnormal zona glomerulosa morphology any structural anomaly of the narrow subcapsular outer zone of the adrenal cortex where aldosterone is produced
tumor regression a decrease in tumor size from a formerly larger state and/or a decrease in the extent of tumors in the body
enlarged clitoris Increased size of the clitoris.
retarded hair growth slow growth of the hair, appears at normal time
increased white fat cell number increase in the number of fat cells with light coloration and few mitochondria
increased keratinocyte migration increased or faster movement of keratinocyes or their precursors to the appropriate location in the body
abnormal ear development developmental anomaly of any of the structures involved in the ear or vestibular system
neural tube degeneration a retrogressive impairment of function or destruction of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord)
thin adrenal cortex reduced thickness of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone
kidney medulla cysts abnormal membranous sacs appearing in the inner portion of the kidney which consists of the renal pyramids
ectopic adenohypophysis
abnormal surfactant secretion anomaly in the production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli
abnormal cerebellum fastigial nucleus morphology any structural anomaly of the most medial of the cerebellar nuclei; it receives its afferent input from Purkinje cells of the flocculonodular lobe and the vermis, and most of its efferent connections travel via the inferior cerebellar peduncle to the vestibular nuclei and to the medullary reticular formation
asymmetric rib-sternum attachment loss of bilateral symmetry in rib attachments to the sternum
impaired passive avoidance behavior decrease in or absence of the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously
abnormal social/conspecific interaction
dilated proximal convoluted tubules stretched or widened aperture of the luminal space of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle
blepharoptosis An eye disease characterized by the drooping or falling of the upper or lower eyelid.
small sebaceous gland decreased size of the sebum secreting glands of the hair shaft
abnormal hippocampus size anomaly in the size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation
abnormal tooth morphology atypical size, shape or hard tissue structure of the teeth
abnormal neutrophil differentiation atypical production of or inability to produce the granular leukocytes that have a three- to five-lobed nucleus and a cytoplasm that contains inconspicuous granules stainable by neutral dyes
camptomelia A bending or abnormal curvature of a long bone.
abnormal vomer bone morphology any structural anomaly of the triangular flat bone of the nasal septum
abnormal endplate potential defect in the excitatory response of peripheral synapses to stimulation; these amplitudes are larger than central synapse potentials
abnormal sagittal suture morphology any structural anomaly of the dense, fibrous connective tissue joint between the parietal bones
increased creatine kinase level increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
abnormal semicircular canal morphology any structural anomaly of the organ of balance composed of three long bony tubes of the labyrinth
nervous system phenotype the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan
abnormal estrous cycle failure of progression or aberrant timing of the regular female reproductive cycle of non-primate placental mammals that is under hormonal control and includes a period of heat (mating receptivity), followed by ovulation and complex changes in the reproductive tract, followed by reabsorbtion of the endometrium if pregnancy does not occur
abnormal cd4-positive t cell differentiation atypical production of or inability to produce the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production
increased brown fat cell number increase in the number of fat cells from the thermogenic form of adipose tissue
increased vertical activity greater than average time spent jumping or rearing
short nasal bone reduced length of either of two rectangular bone plates forming the bridge of the nose
abnormal neuron differentiation abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses
abnormal long bone metaphysis morphology any structural anomaly of the conical section of bone between the epiphysis and diaphysis of the long bones; this section grows during childhood and juvenile stages and is completely ossified in adults
increased urine potassium level greater than normal amount of potassium in the urine
increased splenocyte apoptosis increase in the number of spleen cells undergoing programmed cell death
decreased placental labyrinth size reduction in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood
abnormal testis size anomaly in the size of the male reproductive glands
enhanced learning enhanced ability to aquire lasting change in behavior that is the result of experience
slow postnatal weight gain the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults
abnormal vascular endothelial cell morphology any structural anomaly of the cells that line the vasculature
abnormal sympathetic neuron innervation pattern any changes in the placement, morphology or number of nerve fibers to sympathetic termini
increased nk cell number greater number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells
decreased urine urea nitrogen level abnormally low amounts of nitrogen in the form of urea in the urine
increased birth body size increase in average body size at birth compared to controls
abnormal melanosome transport any anomaly in the directed movement of melanosomes into, out of, within or between cells
decreased osteoclast cell number reduced number of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue
decreased oocyte number reduced numbers of germ cells in the female
ectopic neuron appearance of a neuron or group of neurons in a region where it is not normally found
abnormal inferior colliculus morphology any structural anomaly of the paired inferior eminence of the mesencephalic tectum that is involved in preliminary visual processing, and control of eye movements
enlarged otoliths increased average size of the crystalline calciferous particles adhering to the otolithic membrane
decreased susceptibility to viral infection reduced likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus
increased acute promyelocytic leukemia incidence
abnormal tongue muscle morphology any structural anomaly of the muscular portion of the tongue
abnormal retinal inner nuclear layer morphology any structural anomaly of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells
stria vascularis degeneration degeneration or loss of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph
abnormal keratinocyte physiology abnormal function of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum
decreased circulating thyroid-stimulating hormone level reduced amount in the blood of the hormone that stimulates the growth and function of the thyroid gland
impaired behavioral response to nicotine decreased sensitivity to nicotine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response
abnormal behavioral response to methamphetamine anomaly in the behavioral response induced by methamphetamine such as induced hyperactivity or stereotypic behavior
abnormal auditory brainstem response anomaly in the electrical activity generated in the ascending auditory system in response to short tone bursts; may be used to evaluate sensorineural hearing function; measurements may include the amplitude (the number of neurons firing), latency (the speed of transmission), interpeak latency (the time between peaks), interaural latency (the difference in wave V latency between ears) and threshold
hypothalamus hyperplasia overdevelopment or increased size, usually due an increased number of cells in the hypothalamus
uterus adenomyosis
abnormal macrophage derived foam cell morphology any structural anomaly of a type of macrophage containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions
absent tibia Absence of the tibia.
abnormal heart left atrium weight anomaly in the average weight of the left atrium compared to the control
absent endoderm absence of the innermost of the three primary germ layers of the embryo (the others being mesoderm and ectoderm) that is formed during gastrulation
small pharynx reduced size of the passage between the mouth and the posterior nares and the larynx and esophagus
forelimb paralysis loss of power of voluntary movement in muscles of the forelimb through injury or disease of it or its nerve supply
abnormal malleus morphology any structural anomaly of the largest of the three auditory ossicles, which resembles a club or hammer
increased respiratory quotient increase in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls
decreased erythrocyte potassium level decrease in the amount in red blood cells of potassium
increased cellular sensitivity to gamma-irradiation increased incidence of cell death following exposure to gamma-irradiation
whorled hair an area of hair growing opposite in direction to the rest of the hair, a curl or swirl
absent b cells A severe form of B lymphocytopenia in which the count of B cells is very low or absent.
increased urine deoxycorticosterone level an increased amount of deoxycorticosterone in the urine compared to the normal state
abnormal scala vestibuli morphology any structural anomaly of the division of the spiral canal of the cochlea lying on the apical side of the spiral lamina and vestibular membrane
abnormal pupillary reflex alterations or failure of the pupil to change in diameter as a reflex response to any stimulus
increased gastrointestinal tumor incidence greater than the expected number of tumors originating in the gastrointestinal system in a given population in a given time period
decreased circulating triiodothyronine level reduced amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland
abnormal interdigital cell death change in the expected number of cells undergoing programmed cell death (apoptosis) in the autopod during development, precluding the sculpting of normal digits
asymmetric rib-vertebral column attachment loss of bilateral symmetry in rib attachments to the vertebral column
abnormal schwann cell morphology any structural anomaly of the cells which form the insulating myelin sheaths of peripheral axons
abnormal posterior definitive endoderm morphology any structural anomaly of the posterior region of the definitive endoderm which evolves into the midgut and hindgut, which will eventually differentiate into the large and small intestine
supernumerary nipples greater than the expected number of structures located on the apex of the mammary gland on the integument surface into which the lactiferous ducts open; normal female mice have five pairs of mammary glands and nipples (males have no nipples); two pairs of nipples are situated in the abdomino-inguinal region (inguinal group) and three pairs in the ventral thoracic region (pectoral or thoracic group)
abnormal keratinocyte morphology any structural anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum
abnormal renal protein reabsorption any anomaly in the process in which proteins are taken up from the collecting ducts and proximal and distal loops of the nephron
increased pulmonary ventilation increase in the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment
abnormal habenula morphology any structural anomaly in the group of nuclei that makes up the small eminence on the dorsomedial surface of the thalamus, just in front of the dorsal commissure on the lateral edge of the habenular trigone
diaphragm muscle hyperplasia
abnormal urine antidiuretic hormone level any change in the urine amount of the polypeptide hormone secreted by the posterior lobe of the pituitary gland (neurohypophysis) that increases mean arterial pressure by promoting vasoconstriction and reduces excretion of urine by increasing the reabsorption of water by the kidney tubules
dermal-epidermal separation the appearance of gaps or clefts in the normally continuous junctional interface between the dermis and epidermis
behavioral despair depression assayed by reduced escape attempts and/or immobility when placed in a stressful situation such as a forced swim test or a suspension test; or failure to seek pleasurable stimuli
abnormal embryonic tissue morphology any structural anomaly or development of any embryonic tissue resulting in morphological abnormality
small vagina decrease in the size of the female reproductive canal located between the uterus and the vulva
abnormal laryngeal mucosa morphology any structural anomaly of the mucous lining of the larynx, which is composed of squamous epithelium in the upper larynx and ciliated columnar epithelium in the lower larynx
increased urine sulfate level an increase in amount of sulfates in the urine
abnormal plasma membrane morphology any structural anomaly of the semi-permeable membrane that encloses the cytoplasm of a cell
long hair increased average length of the coat hairs
increased urine nitrite level higher than normal amount of nitrite (NO2-) in the urine, usually indicative of a urinary tract infection; commonly a result of the action of Escherichia coli, Proteus vulgaris, and other microorganisms that may reduce nitrates
genital hemorrhage bleeding into the genitals
abnormal circulating angiotensinogen level anomaly in the concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I
abnormal b cell apoptosis change in the timing or the number of B cells undergoing programmed cell death
decreased circulating interferon-alpha level reduction in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells
abnormal corneocyte envelope morphology any structural anomaly of the electron-dense layer of highly transglutaminase cross-linked protein that is deposited on the inner surface of the plasma membrane of corneocytes in the outermost layers of the epidermis; a monomolecular layer of ceramides is covalently attached to the outer surface of the CE to form a hydrophobic lipid envelope that covers each corneocyte and provides continuity with the lipid matrix
decreased enteric neural crest cell number a reduction in the number of neural crest cells that arise predominantly from the vagal region of the neural tube (vagal neural crest), adjacent to somites 1-7 and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut
abnormal primordial ovarian follicle number abnormal numbers of the ovarian follicle in which the primary oocyte is surrounded by a single layer of flattened follicular cells; primordial follicles are indiscernible to the naked eye and develop to primary, secondary, and finally mature vesicular follicles
testis hypoplasia
abnormal prostate gland dorsolateral lobe morphology any structural anomaly of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle
abnormal vestibular nerve morphology any structural anomaly in the part of the vestibulocochlear nerve [CN VIII] peripheral to the vestibular root; it is composed of the central processes of bipolar neurons that have the terminals of their peripheral processes on the hair cells in the ampullae of the semicircular ducts and the maculae of the saccule and utricle, and cell bodies of the vestibular ganglion
abnormal retinal melanocyte morphology any structural anomaly of the cells that produce pigment in the retina
absent acromion lack of the lateral end of the spine of the scapula which projects as a broad flattened process and articulates with the clavicle, and forms the point of the shoulder
decreased oviduct weight reduction in the average weight of the tube through which the ova pass from the ovary to the uterus
increased heart ventricle size increased average size of the heart ventricles compared to the average for a particular population
dry skin Skin characterized by the lack of natural or normal moisture.
impaired spatial learning impaired ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues
elongated metatarsal bones increased length of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges
increased mammary gland tumor incidence greater than the expected number of neoplasms in the mammary gland, usually in the form of a distinct mass, in a specific population in a given time period
abnormal cochlear inner hair cell number abnormal number of the flask-shaped inner hair sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve
abnormal parametrial fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament
abnormal effector t cell morphology any structural anomaly of a differentiated T cell with ability to traffic to peripheral tissues and is capable of mounting a specific immune response
nail dystrophy Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
expanded mesangial matrix
abnormal urine aldosterone level any change in the urine amount of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule
abnormal roof plate morphology any structural anomaly of the single row of specialized glial cells that occupies the dorsal midline of the developing neural tube along the entire anterior-posterior axis; the roof plate serves as a critical embryonic signaling center for the organization of dorsal neuronal cell types, and acts as a barrier preventing axons and cells migrating across the dorsal midline
abnormal bone healing defects in the restoration of integrity to bone after trauma
complete lethality during fetal growth through weaning death of all organisms of a given genotype in a population between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age)
increased lymphoblastic lymphoma incidence higher than normal incidence of diffuse lymphoma with supradiaphragmatic distribution and T lymphocytes having convoluted nuclei
distended duodenum an expansion in the volume of the portion of the small intestine that extends from the pyloris to the junction with the jejunum, as by stretching or distention
decreased eosinophil cell number fewer than normal eosinophil numbers
cerebral edema
absent nodal flow absence of the leftward movement of extra-embryonic fluid at the ventral node; nodal flow is autonomously generated by the rotation of cilia that are tilted toward the posterior on cells of the ventral node and is the central process in symmetry breaking on the left-right axis; when nodal cilia are immotile or absent, nodal flow does not occur
hypoxia reduced oxygenation of body tissues resulting in the decreased pressure of this component of body gases; commonly due to hypoxemia
impaired macrophage chemotaxis reduced diffusion or accumulation of macrophages in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions
abnormal rhombomere 4 morphology any structural anomaly of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order
hunched posture stooped low with the limbs pulled in close to the body and arched back
tongue hypoplasia
abnormal heart right ventricle size anomaly of the average size of the right ventricle compared to the average for a particular population
dilated distal convoluted tubules stretched or widened aperture of the luminal space of the convoluted portion of the duct system of the nephron between the ascending portion of the loop of Henle and the collecting duct system in the kidney cortex
abnormal snout morphology any structural anomaly of the anterior facial part of the face or muzzle containing the oral and nasal regions
abnormal optic disc morphology any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve
absent cochlear hair cell stereocilia complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells
abnormal parasympathetic ganglion morphology any structural anomaly of the ganglia of the parasympathetic nervous system, including the ciliary, pterygopalatine, submandibular, and otic ganglia in the cranial region and intrinsic (terminal) ganglia associated with target organs in the thorax and abdomen
increased circulating interleukin-12 level increase in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells
thin cerebellar molecular layer reduced width of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells
clonic seizures increased number or decreased threshold for the induction of a seizure characterized by unilateral or bilateral rhythmic jerking movements of the arms and legs caused by alternating contraction and relaxation of muscle
small nasal bone reduced size of either of two rectangular bone plates forming the bridge of the nose
decreased liver free fatty acids level reduced liver concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues
absent rathke's pouch absence of the diverticulum arsing from the embryonic buccal cavity from which the anterior lobe of the pituitary gland is developed
small alisphenoid bone reduced size of either of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young
ocular pterygium abnormal mass of hypertrophied bulbar subconjunctival tissue arising from the conjunctiva of the inner corner of the eye that obstructs vision by growing over the cornea towards the pupil
absent pineal gland absence of the unpaired epithalamic structure that is shaped like a tiny pine cone and located above the posterior commissure near the level of the habenular complex and the sylvian aqueduct; the pineal is both a circumventricular organ and an endocrine organ that secretes melatonin, a serotonin-derived hormone involved in the regulation of circadian rhythms
absent caveolae absence of the small pockets, vesicles, caves, or recesses communicating with the outside of a cell and extending inward, indenting the cytoplasm and the cell membrane
decreased trabecular bone connectivity density reduction in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures
abnormal blinking anomaly in the normal reflex of closing the eyes frequently and rapidly
abnormal cerebellar molecular layer any structural anomaly of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells
increased interleukin-17 secretion increase in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors
uterus cysts presence of fluid-filled structures inside the lumen of the uterus; usually refers to benign growths
abnormal circulating interleukin-1 alpha level anomaly in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active
increased coping response enhanced ability to respond productively to a stressful situation
rib bifurcation forking or division of ribs, may be a result of partial rib fusions
premature neuronal precursor differentiation earlier than normal transformation of neuronal precursor cells into neurons
abnormal thyroid gland development failure or abnormality in the formation of the thyroid gland during organogenesis
head tilt condition in which the portion of the body containing the brain and organs of sight, hearing, taste, and smell lists to the side
increased kidney tumor incidence greater than the expected number of tumors originating in the kidney in a given population in a given time period
abnormal efferent ductules of testis morphology any structural anomaly in the small seminal ducts that lead from the testis to the head of the epididymis
abnormal periocular mesenchyme morphology any structural anomaly of the mesenchymal cells that give rise to the corneal endothelium, corneal stroma, sclera, iris stroma, ciliary muscle, ciliary stroma, and trabecular meshwork of the eye
abnormal purkinje cell number different from average number of neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex
esophagogastric junction metaplasia conversion of one differentiated cell type to another differentiated cell type at the terminal end of the esophagus and beginning of the stomach
decreased interleukin-17 secretion reduction in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors
abnormal circulating pancreatic peptide level anomaly in the amount of the 36-amino acid pancreatic hormone in the blood that is secreted mainly by endocrine cells found at the periphery of the islets of Langerhans in response to ingestions, and regulates gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite
short frontal bone reduced length of the bone forming the forehead and roof of the eye orbit
increased thyroid carcinoma incidence greater than the expected number of a malignant epithelial neoplasms of the thyroid gland, occurring in a specific population in a given time period
abnormal frontonasal prominence morphology any structural anomaly of an unpaired facial process in the embryo formed from the tissues surrounding the forebrain vesicle that develops into the forehead and bridge of the nose/snout
decreased compensatory feeding amount decreased amount of food consumed after a period of fasting
abnormal gas homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of gaseous elements in animal tissues or blood
abnormal intestinal mucosa morphology any structural anomaly of the mucous lining of the intestine; this consists of epithelium, lamina propria, and a layer of smooth muscle cells
abnormal dermis papillary layer morphology any structural anomaly of the more superficial, thin layer of the dermis that interdigitates with the epidermis
increased level of surface class i molecules greater than normal expression of major histocompatibility complex class I molecules at the cell surface
genital tubercle hypoplasia underdevelopment or reduced size of the embryonic anlage of the external genitalia, usually due to a reduced number of cells
osteoarthritis A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans.
vascular stenosis a stricture or occlusion of a lumen of vascular tissue
abnormal hair shaft morphology any structural anomaly of the cuticle, cortex and/or medulla of a hair
abnormal cellular replicative senescence anomaly in the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division
abnormal throat morphology any structural anomaly in the anterior part of the neck, in front of the vertebral column comprising the pharynx and larynx
decreased percent body fat less fat, relative to controls, as a percentage of total body weight
increased susceptibility to systemic lupus erythematosus greater likelihood that an organism will develop inflammatory connective tissue symptoms characteristic of lupus including skin rash, arthritis and inflammation of different organs
head tossing repetitive flailing of the head in multiple directions
spinning repetitive rolling of the body
incomplete caudal neuropore closure incomplete joining together of the neural folds of the caudal opening of the neural tube; failure of caudal neuropore closure results in spina bifida, the severity of which depends on how much of the spinal cord remains exposed
seizures Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.
abnormal nasolacrimal duct morphology any structural anomaly of the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity
abnormal first pharyngeal arch morphology any structural anomaly of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel's cartilage, trigeminal nerve, and maxillary artery
abnormal loop of henle descending limb morphology any structural anomaly of the portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure
abnormal triiodothyronine level anomaly in the amount of a thyroid hormone that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland
spleen hyperplasia overdevelopment or increased size, usually due to increased cell number, in the spleen
abnormal visual acuity any abnormality in the spatial resolution or resolving power of the visual processing system
absent neutrophils absence of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes
abnormal circulating sulfate level altered concentration of sulfate in the blood
abnormal parturition defect in the process of labor and delivery in female animals
increased susceptibility to kidney reperfusion injury an increased likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia
increased thyroxine level greater than the normal concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism
abnormal scala tympani morphology any structural anomaly of the division of the spiral canal of the cochlea lying on the basal side of the spiral lamina
abnormal external urethral orifice morphology any structural anomaly of the external opening or orifice of the urethra through which urine and seminal fluid (in males only) leave the body; in males the meatus presents as a vertical slit normally positioned at the tip of glans penis; in females the meatus is located between the clitoris and the vagina in the vulvular vestibule of the female genitalia
abnormal male reproductive gland physiology any functional anomaly of any sex gland that is part of the male reproductive system
absent mesencephalic trigeminal nucleus missing group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve
increased renal glomerulus apoptosis increase in the number of cells of the kidney glomerulus undergoing programmed cell death
increased heart left atrium weight more than average weight of the left atrium
abnormal chorioallantoic fusion anomaly in the process by which a highly vascularized extra-embryonic fetal membrane is formed by fusion of the chorion and allantois; in most mammals, the chorioallantois constitutes the fetal portion of the placenta
abnormal purkinje cell dendrite morphology any structural anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer
small trigeminal motor nucleus reduced size of the group of motor neurons innervating the muscles of mastication
abnormal lens development aberrant formation of the transparent structure of the eye responsible for focusing light rays
small pituitary gland An abnormally decreased size of the pituitary gland.
abnormal pituitary diverticulum morphology any structural anomaly of a tubular outgrowth of ectoderm from the stomodeum of the embryo; the outgrowth grows toward the infundibular process of the diencephalon, around which it forms a cup-like mass, giving rise to the pars distalis and pars juxtaneuralis of the hypophysis
cellular necrosis pathologic death of cells, usually from irreversible damage
submandibular gland inflammation local accumulation of fluid, plasma proteins, and leukocytes in either of the large major salivary glands situated beneath the mandible
decreased mean corpuscular volume less than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices
abnormal arteriole morphology any structural anomaly of the small diameter vessels that branch from the arteries and lead to the capillaries
myositis An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.|Inflammation of a muscle or muscle tissue.
abnormal outer hair cell stereociliary bundle morphology any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia
abnormal pancreatic endocrine progenitor cell proliferation anomaly in the ability of a pancreatic endocrine progenitor cell population to undergo expansion by cell division
abnormal cd4-positive, cd25-positive, alpha-beta regulatory t cell number any anomaly in the number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release
abnormal rosenthal canal morphology any structural anomaly in the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea; it is divided incompletely into two compartments by a winding shelf of bone, the bony spiral lamina
abnormal pr interval anomaly in the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex
abnormal enterocyte apoptosis change in the timing or the number of enterocytes undergoing programmed cell death
abnormal renal glomerulus basement membrane thickness increased or decreased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule
abnormal superior vagus ganglion morphology any structural anomaly of the upper ganglion of the vagus nerve located at the jugular foramen
abnormal melanoblast morphology any structural anomaly of a cell that originates from the neural crest and differentiates into a pigment cell
increased forebrain size greater than average size of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions)
retina microaneurysm focal dilation of arteriocapillary junctions in the retina
coiled sperm flagellum abnormal twisting of the sperm flagellum into coils or spirals
abnormal urinary bladder weight anomaly in the average weight of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys compared to controls
decreased circulating interleukin-2 level reduction in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes
fused carpal bones Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).
increased circulating tumor necrosis factor level greater amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium
abnormal single cell response threshold any change in the value at which a stimulus first elicits a recordable response recorded in a single cell
abnormal dermis reticular layer morphology any structural anomaly of the thicker, deeper layer of the dermis, comprised of criss-crossing collagen fibers that form a strong elastic network and also containing blood and lymph vessels, nerves and nerve endings, and hair follicles
abnormal body height any anomaly in the shoulder to floor distance compared to controls
decreased mast cell degranulation reduction in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell
urinary bladder obstruction any impediment or blockage of the musculomembranous elastic bag serving as a storage place for urine
ventricular premature beat a heartbeat is initiated by abnormal electrical activation originating in the heart ventricles rather than by the sinoatrial node, the normal heartbeat initiator, before a normal heartbeat would occur
enhanced behavioral response to morphine increased sensitivity to morphine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response
ectopic hippocampus pyramidal cells the hippocampus pyramidal cell body resides in places other than the pyramidal cell layer of the hippocampus
abnormal kidney epithelial cell primary cilium physiology any functional anomaly of the non-motile primary cilia found on renal epithelial cells and thought to act as a mechanical sensor to detect renal tubular fluid; impaired mechanical response of primary cilia to physiological fluid flow, or abnormalities in intracellular Ca2+ increase in response to fluid stress may alter renal (tubular) cell proliferation and differentiation and lead to renal cyst formation
abnormal optic stalk morphology any structural anomaly of the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain
abnormal neural tube mantle layer morphology any structural anomaly of the layer of glia and differentiating neurons that will form the gray matter of the spinal cord; this lies between the ventricular and marginal layers and includes the basal and alar plates
small alveolar lamellar bodies decreased size of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant
increased dendritic cell number greater number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation
increased lung tissue damping increased value of the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues
eyelids open at birth open eyes instead of closed at perinatal stage; failure of the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye to fuse completely together during development and an individual is born with the eye(s) uncovered leading to degrees of injury and blindness
abnormal posterior cardinal vein morphology any structural anomaly of the two paired veins draining the caudal part of the body
abnormal renal tubule epithelial cell primary cilium morphology any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor
shortened circadian period decrease in the cycle length expressed when exposed to constant conditions without temporal cues
abnormal intramembranous bone ossification An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, perietal, occipital, and temporal bones, and the clavicles) are formed.
small basioccipital bone reduced size of the bone in the base of the cranium, frequently forming a part of the occipital in the adult, but usually distinct in the young
abnormal ear distance/ position anomaly in the space between or the placement of the outer ears
decreased glomerular capillary number reduced number of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles
abnormal mitochondrion morphology Any structural anomaly of the mitochondria.
increased susceptibility to injury greater than the normal reaction to trauma, especially that by physical means
increased pre-pro b cell number increased number of pro-B cells that are CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative; this cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive
abnormal maxillary sinus morphology any structural anomaly of the paired evaginations of the mucous membrane of the nasal cavity into the air space located within the maxilla
abnormal otic vesicle development anomaly in the formation of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear
disproportionate dwarf abnormally undersized with disproportionate body parts; usually with more significant shortening of the limbs in proportion to the trunk size
impaired behavioral response to xenobiotic decreased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response
decreased urine protein level less than the normal amount of proteins in the urine
abnormal brown adipose tissue physiology any functional anomaly in the thermogenic form of adipose tissue that is composed of brown adipocytes
small floor plate reduced size of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube
renal glomerulus lipidosis presence of lipid deposits and/or lipid-laden foam cells in the renal glomerular tufts
increased t-helper 17 cell number increased number of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17
thick mitral valve cusps an increase in the ratio of the mitral valve cusp wall thickness to the atrioventricular septum thickness
abnormal lymph node b cell domain morphology any structural anomaly of the part of the lymph node cortex in which B lymphocytes home to primary follicles to survey follicular dendritic cells (FDCs); antigen stimulated B cells proliferate and differentiate within the follicles forming distinctive germinal centers
abnormal circulating lactate dehydrogenase level abnormal blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types
multiflagellated sperm presence of more than one sperm flagellum, displaying either one common origin from the sperm head or multiple origins from the same sperm head
reduced nmda-mediated synaptic currents reduction in the measured amplitude, current density or duration of response to stimulation of NMDA receptors
abnormal plasmacytoid dendritic cell number anomaly in the number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli
abnormal urinary bladder morphology any structural anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys
abnormal retinal rod cell morphology any structural anomaly of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane; rods are more sensitive to light than cones, but rod mediated vision has less spatial and temporal resolution than cone vision
abnormal digestive system development abnormal formation of the organ system that converts ingested food to nutrients and energy
circling repeated movement in a circle; often associated with inner ear defects
abnormal auditory summating potential any anomaly in the dc shift in the waveform sustained for the duration of a toneburst stimulus that represents the depolarization of sensory hair cells in the cochlea; positive summating potentials (SPs) reflect activity of basal turn hair cells while negative SPs are derived from hair cell activity in the apical turn; negative SPs tend to be obtained at low frequencies and low intensities of stimulus, while positive SPs are recorded in response to high frequencies and high intensities
abnormal paired-pulse inhibition defects in the suppressive response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of inhibition of neurotransmitter release at the second stimulus
abnormal aortic arch and aortic arch branch attachment any anomaly of the connection site of the aortic branches to the aortic arch, including the attachment sites for the left common carotid artery, the left subclavian artery, and the brachiocephalic trunk which further splits to form the right subclavian artery and the right common carotid artery
abnormal retinal ganglion cell morphology any structural anomaly of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain
epididymis epithelium degeneration pathological deterioration of the layer of secretory cells which lines the epididymis
bleb A cell extension characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusions.
craniorachischisis Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.
abnormal postnatal growth anomaly in reaching a developmental stage or stages after birth
abnormal brain development aberrant or incomplete differentiation of the brain
absent trophectoderm absence of the outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition
thin skin Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
thin myometrium reduced thickness of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium
decreased memory t cell number reduction in the number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive
degenerate molars deterioration or loss over time of the molars
abnormal memory t cell number deviation from the normal number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive
abnormal miniature inhibitory postsynaptic currents defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an inhibitory impulse
abnormal osteocyte morphology any structural anomaly of a mature osteoblast that has become embedded in the bone matrix (osteoid) in small cavities called lacuna and is connected to adjacent osteocytes via protoplasmic projections called canaliculi
decreased cochlear hair cell stereocilia number decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner and outer hair cells
abdominal aorta aneurysm a protruding sac formed by the dilation of the wall of the part of the descending aorta that begins at the diaphragm and continues to the point of the common iliac arteries, resulting from a weakening of the vessel wall
absent lamina terminalis absence of the anterior-most (rostral) portion of the wall of the neural tube, formed by closure of the anterior neuropore; agenesis of the lamina terminalis results in anencephaly
decreased number of peritubular myoid cells reduced number of the flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule
abnormal axillary lymph node morphology any structural anomaly of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region
syndromic hearing loss a form of progressive hearing loss that is usually associated with malformations of the external ear and other inherited signs and symptoms
abnormal costal cartilage morphology any structural anomaly of the nonvascular, resilient, flexible hyaline connective tissue that connects the end of a true rib to the sternum or the end of a false rib with the with the lower border of the costal cartilage above it
abnormal splenocyte morphology any structural anomaly of a cell of the spleen
abnormal circulating chemokine level deviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes in the circulation
arthritis Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints.
abnormal cerebellum posterior vermis morphology any structural anomaly of the posterior portion of the narrow middle zone between the two hemispheres of the cerebellum that is located posterior to the primary fissure
brittle hair Fragile, easily breakable hair, i.e., with reduced tensile strength.
abnormal thalamus morphology any structural anomaly of the large ovoid mass of paired bodies containing mostly grey matter and forming part of the lateral wall of the third ventricle of the brain
abnormal hair medulla air spaces air spaces between septa-forming cells of hair medulla are larger or smaller than normal
abnormal zigzag hair morphology any structural anomaly or amount of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla
increased tongue size
increased heart left ventricle size greater than average size of the left ventricle
abnormal xenobiotic induced morbidity/mortality any anomaly in induction of a diseased state or death caused by a foreign compound
increased bone marrow cell number increased number of cells that make up the core cavities of bones when compared to the normal state
decreased embryonic neuroepithelium thickness reduced width of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells
decreased igd level less than normal immunoglobulin class D level
skeletal muscle fiber atrophy acquired diminution of the size of skeletal muscle fibers associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation
absent presphenoid bone absence of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult
absent right lung accessory lobe absence of the right lung lobe which lies against the diaphragm and has a considerable volume residing in the left hemi-thorax
abnormal kidney epithelium morphology any structural anomaly of the cellular avascular layer of the kidney luminar surfaces
abnormal pons morphology any structural anomaly of the band of nerve fibers in the brain connecting the medulla oblongata and the mesencephalon; this region conveys information about movement from the cerebral hemisphere to the cerebellum
absent circulating noradrenaline absence of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine
small epididymis decrease in the average size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens
decreased transitional stage t2 b cell number reduced number of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles
abnormal b cell anergy any anomaly in the process contributing to anergy in B cells, a state of functional inactivation which is part of B cell tolerance induction
mortality/aging
increased b cell proliferation greater than normal expansion rate of the B cell population by cell division in response to stimuli
obese
novel environmental response-related retropulsion when confronted with a novel stimulus, subjects exhibit involuntary backward walking
complete embryonic lethality at implantation death of all organisms of a given genotype in a population at the point of implantation (Mus: E4.5)
abnormal rr interval anomaly in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate
decreased small intestinal microvillus size reduced size of the additional extensions of the villi of the small intestine which protrude from the apical surface of the epithelial cells lining the villi; the microvilli increase the absorptive surface area of the small intestine by approximately 600-fold
decreased striatum area reduced size of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking
abnormal somite size atypical size of any of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo
decreased trophoblast glycogen cell number reduced number of the glycogen-accumulating trophoblast cells that arise in the junctional zone of the placenta
abnormal pancreatic acinar cell zymogen granule morphology any structural anomaly of a membrane-bounded, cytoplasmic secretory granule found in pancreatic acinar cells and contains inactive digestive enzyme precursors
abnormal meibomian gland development aberrant formation or incomplete differentiation of the sebaceous glands located at the rim of the eyelids inside the tarsal plate and responsible for the supply of meibum, an oily substance that prevents evaporation of the eye's tear film; in mice, meibomian gland development is initiated around E18.5 with the formation of an epithelial placode and mesenchymal condensation, similar to that observed in hair follicle development; invagination of the epithelium into the developing mesenchyme then continues from birth to about P3 with initial branching of the epithelial cord detected at P5; by P8 the developing meibomian gland shows extensive ductal branching and the formation of distinct acini with mature meibomian glands present by P15 or eyelid opening
impaired basement membrane formation defect in the development of the extracellular supportive tissue closely adjacent to the basal surface of the epithelium of muscle cells, fat cells and Schwann cells, which is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components
abnormal basophil physiology any functional anomaly of the leukocyte that contains granules that stain with basic dyes
increased white adipose tissue amount increased quantity of fat-storing cells/tissue
decreased nk cell degranulation reduction in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells
decreased t cell number fewer than normal T cell numbers
abnormal cerebellum vermis lobule ii morphology The central lobule (lobules II/III) is a single structure in humans, but it is divided by the posterior superior fissure in rodents.
abnormal tubuloglomerular feedback response any anomaly in the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa
abnormal b wave amplitude anomaly in the size (height or maximum displacement) of the b wave as measured in the electroretinogram
abnormal urine organic cation level any change in the amount of organic cations in the urine
absent long term depression lack of the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of CA1 neurons
anhedonia Inability to experience pleasure activities usually found enjoyable.
decreased circulating aldosterone level A decreased level of aldosterone in the blood.
decreased renal tubule apoptosis decrease in the number of renal tubule cells undergoing programmed cell death
absent thymus cortex lacking the outer part of the thymus lobule which surrounds the medulla and is normally composed of closely packed lymphocytes
decreased interleukin-1 secretion reduction in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens
increased embryonic neuroepithelial cell proliferation increase in the expansion rate of the cells of the embryonic neuroepithelium by cell division
empty decidua capsularis the implanted embryo normally covered opposite the placenta by uterine mucosa and epithelium following implantation is missing, suggesting the embryo died early during implantation but after the decidual response and modification of uterine stromal cells
lymphoid hypoplasia underdevelopment or reduced size, usually due to a reduced cell number, in lymphatic tissue
abnormal embryo attachment any anomaly in the process whereby the blastocyst anchors to the uterine luminal epithelium and cannot be dislodged by flushing
increased eosinophil cell number
cardiac interstitial fibrosis formation of fibrous tissue within the interstices of the heart as a result of repair or a reactive process
abnormal myogenesis anomaly in embryonic formation of muscle cells or fibers
increased gonadotroph cell number greater number of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH)
abnormal eye morphology A structural anomaly of the eye.
short perineum reduced length of the area between the genital organs and the anus that lies beneath the pelvic diaphragm
increased circulating prolactin level greater than expected blood concentration of the hormone that stimulates milk secretion
abnormal kidney collecting duct morphology any structural anomaly of the kidney ducts lined by simple cuboidal epithelium that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance; each cortical collecting duct joints with other ducts to make a medullary connecting duct, which eventually drains into a papillary duct, emptying urine into the renal pelvis for drainage into the ureter
abnormal olfactory bulb granule cell morphology any structural anomaly of the main intrinsic GABAergic neuron in the granule cell layer of the main olfactory bulb; dendrites of these cells receive synaptic input from mitral and tufted cell lateral dendrites in the external plexiform layer, and have synaptic outputs on those dendrites through reciprocal dendrodendritic synapses
lenticonus A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.
short tail reduced length of tail compared to control
urinary incontinence Loss of the ability to control the urinary bladder leading to involuntary urination.
abnormal lumbar dorsal root ganglion morphology any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the lumbar vertebrae
abnormal sensorimotor gating malfunction of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI)
abnormal somatic sensory system morphology any structural anomaly of the neural tissue involved in the transmission of sensory signals
impaired fibroblast cell migration failure of cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium
cardiac ischemia inadequate blood flow to the heart; may cause infarction and is usually caused by coronary artery disease
abnormal coccygeal vertebrae morphology
absent tooth primordium missing the cells that will give rise to teeth
abnormal cell chemotaxis any anomaly in the directed movement of a motile cell guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis)
partial embryonic lethality between somite formation and embryo turning the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between somite formation and the initiation of embryo turning (Mus: E8 to less than E9)
disorganized photoreceptor inner segment derangement of the pattern of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region
abnormal neural crest cell apoptosis change in the timing or the number of neural crest cells undergoing programmed cell death
xerostomia Dryness of the mouth due to salivary gland dysfunction.
abnormal axon pruning defects in the developmental elimination of axons that fail to participate in an active neuronal circuit by retraction, degeneration, shedding or other mechanism
mammary gland hyperplasia overdevelopment or increased size of the mammary gland, usually due an increased number of cells
abnormal pinna reflex anomaly in the response to an auditory stimulus by a characteristic ear twitch
abnormal glomerular capillary morphology any structural anomaly of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus
abnormal hind foot hair pigmentation an anomaly in the expected color gradient of hair covering the metatarsals and phalanges often differentially expressed in females and males
cochlear inner hair cell degeneration degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti
abnormal spinal cord dorsal column morphology any structural anomaly of the wedge-shaped fiber bundle of white matter in the dorsomedial side of the spinal cord that is made up of the fasciculus gracilis and fasciculus cuneatus; it is part of the ascending posterior column-medial lemniscus pathway that is important for well-localized fine touch and conscious proprioception
neuronal intranuclear inclusions presence of aggregates of protein within the nuclei of neurons; frequently seen in Huntington's disease
abnormal coronary vessel morphology any structural anomaly of any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation
short photoreceptor inner segment decreased length of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region
abnormal mucous neck cell morphology any structural anomaly of the mucin-producing epithelial cells present in the neck of the gastric glands
abnormal pre-pro b cell morphology any structural anomaly of a pro-B cell that CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative. This cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive
scapular bone foramen presence of a hole in either or both of the large, flat bones of the back part of the shoulder
increased ear pigmentation visually detectable excess of pigment present in the outer ear
abnormal sertoli cell morphology any structural anomaly of the supporting cells of the seminiferous tubule epithelium that create the blood-testes barrier and enable spermatogenesis
abnormal posterior primitive streak morphology any structural anomaly of the posterior region of the vertebrate primitive streak which gives rise to the extraembryonic mesoderm
abnormal endolymphatic duct morphology any structural anomaly of the small membranous canal, connecting with both saccule and utricle of the membranous labyrinth, passing through the aqueduct of vestibule, and terminating in the endolymphatic sac
conductive hearing loss An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
decreased neuronal stem cell self-renewal an decreased rate in the process by which stem cells divide and proliferate to make more stem cells, perpetuating an decrease in the stem cell pool; self-renewal is division with maintenance of the undifferentiated state
abnormal pulmonary respiratory rate deviation from the normal number of breaths per minute
abnormal gestational length anomaly in the usual duration of time between when a fertilized egg implants in the wall of the uterus and the birth of offspring
enlarged cecum increased size of the large sac at the ileum and large intestine junction
abnormal thymus medulla morphology any structural anomaly of the inner area of thymus lobules
absent cartilage absence of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life
fused dorsal root ganglion loss of DRG spacing pattern and the appearance of two or more ganglia as one
abnormal long bone epiphysis morphology any structural anomaly of the rounded end of a long bone
abnormal retinal cone cell inner segment morphology any structural anomaly of the retinal cone cell region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region
abnormal blood gas level An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.
increased salivary adenocarcinoma incidence
thick epidermis increase in the width of the epidermal cell layer in the skin
abnormal suprachiasmatic nucleus morphology any structural anomaly of an ovoid densely packed collection of small cells of the anterior hypothalamus lying close to the midline in a shallow impression of the optic chiasm; it receives input from the retina and influences neuroendocrine function
abnormal cortical plate morphology any structural anomaly of the outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers
absent molar root absence of the part of a molar tooth that is implanted in the gum; mandibular and maxillary molars usually have two and three roots, respectively
abnormal hormone-sensitive lipase activity anomaly in the ability to catalyze the reactions: diacylglycerol + H2O = monoacylglycerol + a carboxylate; triacylglycerol + H2O = diacylglycerol + a carboxylate; and monoacylglycerol + H2O = glycerol + a carboxylate
abnormal motile cilium morphology any structural anomaly of a cilium which has a variable arrangement of axonemal microtubules, contains molecular motors, and beats with a characteristic whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface; motile cilia are typically found in multiple copies on epithelial cells that line the lumenal ducts of various tissues and may also function as sensory organelles
absent maxillary shelf missing bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate
abnormal male germ cell apoptosis presence of male germs cells that undergo programmed cell death
abnormal epididymis size anomaly in the size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens
increased liver regeneration greater than the normal ability of liver to regenerate healthy tissue following partial hepatectomy
increased large intestine adenocarcinoma incidence higher than normal incidence of a malignant neoplasm of epithelial cells in the large intestine
abnormal object recognition memory anomaly in the ability to recognize objects that the animal has previously encountered; recognition is measured by relative amount of time exploring objects, which should decrease upon subsequent or multiple presentations of the same object when presented with novel objects at the same time
palatine bone horizontal plate hypoplasia underdevelopment, usually due to a deficiency in the number of cells, of the bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate
abnormal catecholamine level any anomaly in the amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines are act as hormones or neurotransmitters and are derived from the amino acid tyrosine
total anomalous pulmonary venous connection
increased renal glomerulus lobularity distortion of the renal glomerular architecture usually accompanied by increased mesangial cell proliferation and following crowding of the proliferated cells towards the axis of the capillary loops and peripheral recanalization, giving the glomerular tuft a lobular or hypersegmented appearance
decreased interleukin-12b secretion reduction in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23
choroid plexus hyperplasia overdevelopment or increased size, usually due an increased number of cells located in the infoldings of blood vessels of the pia mater covered by a thin coat of ependymal cells that form tufted projections into the third, fourth, and lateral ventricles of the brain
absent hair follicle pheomelanosome pheomelanin yellow pigment is not present in pheomelanosomes of the hair follicle
flattened snout a snout flattened laterally along the whole length without the appearance of distinctive curvature
abnormal basal lamina morphology any structural anomaly of the sheet of extracellular matrix characteristically situated under epithelial cells, around muscles, nerves, capillaries, and fat cells, and situated between these elements and the underlying or surrounding connective tissue
increased mortality induced by gamma-irradiation greater sensitivity to doses of ionizing radiation
increased sebaceous gland number greater than normal numbers of the holocrine glands that secrete sebum into the hair follicles, or in hairless areas into ducts
enhanced long term potentiation greater than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells
decreased susceptibility to neuronal excitotoxicity less than normal amount of neuronal cell death following exposure to a neurotoxic compound, such as kainate-induced neuronal cell death mediated via a glutamate excitotoxic process
iris coloboma A coloboma of the iris.
glomerulosclerosis A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
abnormal respiration anomaly in the movement of gases into and out of the lung
abnormal vagina development abnormal morphogenesis of the female reproductive canal located between the uterus and the vulva
abnormal skeletal muscle fiber morphology Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.
abnormal forced expiratory flow rates anomaly in the rates of airflow during forced vital capacity determination
abnormal right lung morphology any structural anomaly of the part of the organ of respiration located on the right side of the body and consists of the caudal, cranial, middle and accessory lobes
abnormal lateral nasal prominence morphology any structural anomaly of the lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it
abnormal sarcolemma morphology any structural anomaly in the plasma membrane of a muscle fiber that is capable of conducting electrical impulses
absent thyroid gland lack of the endocrine gland that is normally located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin
abnormal vertebral lamina morphology any structural anomaly of two broad plates directed dorsomedially from the pedicles; these fuse at the dorsal midline, and complete the dorsal wall of the vertebral foramen
abnormal small intestine crypts of lieberkuhn morphology any structural anomaly of the parallel, tubular, epithelial pits (crypts) with openings at the bases of the small intestinal villi; their thin walls are formed by columnar epithelial cells: mostly undifferentiated stem and intermediate cells and an increasing number of mucus-secreting goblet cells as the small intestine proceeds distally, all of which migrate out of the glands onto the villi, but also protein- (enzyme-) secreting Paneth cells that remain in the glands
thin lip lips having a reduced amount of soft tissue
abnormal postimplantation uterine environment failure of the uterus to undergo the changes necessary to support pregnancy following implantation of the embryo
increased thymus tumor incidence greater than the expected number of neoplams in the thymus occurring in a specific population in a given time period
decreased gonadal fat pad weight less than average weight of the encapsulated adipose tissue associated with the ovaries or testes
short squamosal bone length reduction of the thin, platelike part of the temporal bone
myopia A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness.
reduced male fertility reduced ability of male to produce live offspring
sparse vibrissae few and widely spaced stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors
abnormal spinal cord white matter morphology any structural anomaly of the regions of the spinal cord that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites
abnormal retinal cone bipolar cell morphology any structural anomaly of the retinal bipolar cells that connect to both ganglion and amacrine cells
absent cerebellum fissure absence of the deep furrows which divide the lobules of the cerebellum, including the postcentral, primary and secondary furrows
pituitary gland hyperplasia overdevelopment or increased size, usually due to increased cell number, of the pituitary gland
abnormal placenta size anomaly in the size or shape of the organ of metabolic interchange between fetus and mother
double kidney pelvis
abnormal cajal body morphology alteration in structure, number or location of subnuclear structures involved in snRNP biogenesis and in the trafficking of snoRNPs and snRNPs
abnormal olfactory system physiology any functional anomaly of the system relating to smell
abnormal cd8-positive, gamma-delta intraepithelial t cell morphology any structural anomaly of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements
abnormal neural crest cell physiology any functional anomaly in the complex process by which multipotent neural crest progenitors acquire migratory and invasive properties, emigrate from the dorsal aspect of the neural tube, migrate along distinct pathways, and differentiate into diverse cell types
abnormal cornea morphology any structural anomaly of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure
overexpanded pulmonary alveoli expanded volume of the saclike terminal dilation of the respiratory bronchioles, alveolar ducts and alveolar sacs across which gas exchance occurs between alveolar air and the pulmonary capillaries
increased inferior colliculus size enlargement of the paired inferior eminence of the mesencephalic tectum
small premaxilla reduced size of the anterior and interior portion of the maxilla
abnormal osteoblast physiology any functional anomaly of a skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell
absent optic tract absence of the band of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region
abnormal auchene hair morphology any structural anomaly of truncal hairs having a single constriction and bend about midway along the hair shaft, and contain two or more air cells in the medulla
loss of gabaergic neurons loss of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter, commonly due to an apoptotic event
abnormal anal canal morphology any structural anomaly in the terminal portion of the alimentary canal, which begins at the anorectal junction, where the rectal ampulla abruptly narrows as the alimentary canal pierces the pelvic diaphragm (levator ani), and ends at the anal verge, when the anoderm that lines the lower anal canal changes to hairy perianal skin; surrounded by the internal and external anal sphincters
abnormal t-helper 17 cell morphology any structural anomaly of a CD4-positive, alpha-beta T cell with the phenotype RORgamma-t-positive that produces IL-17
insensitivity to parathyroid hormone no changes in calcium homeostasis in response to endogenous or exogenous hormone
decreased circulating ghrelin level less than the normal blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that normally stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland
increased fear-related response greater emotional response related to anticipation of specific pain or danger
aversion to addictive substance purposeful avoidance of an addictive substance due to dislike
decreased susceptibility to bacterial infection reduced likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria
increased circulating haptoglobin level increased amount in the blood of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity
brainstem hemorrhage bleeding into the brain stem
absent immature b cells absence of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity
cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule.
absent hair follicle inner root sheath absence of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer and the inner root sheath cuticle
vascular inflammation local accumulation of fluid, plasma proteins, and leukocytes in a blood vessel
abnormal uterine horn morphology any structural anomaly of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet; uterine horns are anterior Mullerian duct-derived structures
increased porphyrin level elevated concentration of porphyrins or protoporphyrins
abnormal splenocyte proliferation anomaly in the ability of a splenocyte cell population to undergo expansion by cell division
decreased erythrocyte magnesium level decrease in the amount in red blood cells of magnesium
decreased keratinocyte proliferation reduction in the expansion rate of keratinocytes by cell division
increased fatty acid level elevated concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated
abnormal body temperature deviation in the level of heat natural to a living being
absent dorsal root ganglion absence of the groups of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column
patent ductus venosus failure of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein (that allows oxygenated blood to bypass the developing liver) to close in adults
abnormal atrium myocardium morphology any structural anomaly of the atrial part of middle layer of the heart, comprised of involuntary muscle
abnormal plasma cell number anomaly in the number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin
decreased circulating copper level less than the normal concentration of copper in the blood
abnormal hyperactivated sperm motility any anomaly in the type of sperm motility that is observed in most sperm recovered from the site of fertilization and is thought to help sperm detach from the oviductal epithelium, reach the site of fertilization, and penetrate the cumulus and zona pellucida of the oocyte; normally, once sperm from most species become hyperactivated, the flagellar beat becomes asymmetrical and higher amplitude, resulting in circular or figure-eight trajectories
decreased neuron number fewer than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses
decreased hepatocyte proliferation reduction in the expansion rate of the hepatocyte cell population by cell division
increased lipoprotein lipase activity greater ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate
abnormal mammary gland pattern aberration in the spacing and arrangement of mammary glands that differentiate during early embryogenesis as it relates to the norm for the species
abnormal endometrium morphology any structural anomaly of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy
double inlet heart left ventricle
pleural effusion The presence of an excessive amount of fluid in the pleural cavity.
increased noradrenaline level greater than normal amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine
cochlear hair cell degeneration degeneration or loss of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve
abnormal eosinophil differentiation atypical production of or inability to produce the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions
decreased blood urea nitrogen level low circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function
abnormal circulating estradiol level aberration in the blood concentration of this most potent estrogen
lung inflammation
decreased circulating complement protein level less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
abnormal anxiety-related response altered emotional response related to anticipation of a non-specific threat
absent digestive secretion failure to produce and/or release a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system
increased anti-nuclear antigen antibody level elevated level of antibodies to nuclear antigens present in the sera
abnormal conditioned emotional response anomaly in an emotional response that has been acquired by conditioning
heart hyperplasia overdevelopment or increased size of the heart, usually due an increased number of cells
enlarged uterus
abnormal neurocranium morphology any structural anomaly of the bones of the skull enclosing the brain
small superior glossopharyngeal ganglion reduced size of the upper ganglion of the glossopharyngeal nerve located at the jugular foramen
abnormal circulating glucagon level anomaly in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes
multifocal hepatic necrosis morphological changes resulting from multiple localized areas of pathological death of liver tissue; usually due to irreversible damage
decreased secondary ovarian follicle number fewer than normal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers
absent visual evoked potential absence of a characteristic electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; absence may indicate blindness
increased circulating serum albumin level
abnormal functional residual capacity anomaly in the volume of air remaining in the lungs at the end of a normal expiration
abnormal mesendoderm development failure or abnormality in the formation of the embryonic cell layer that gives rise to both the endoderm and mesoderm
abnormal circulating pyruvate kinase level abnormal concentration in the blood of the phosphotransferase in the glycolytic pathway that catalyzes the transfer of phosphate from phosphoenolpyruvate to ADP, forming ATP and p; deficiency results in hemolytic anemia
abnormal intraepithelial t cell morphology any structural anomaly of a T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements
suppressed circulating follicle stimulating hormone level repression of secretion into the blood of FSH, the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis
abnormal neural plate morphology any structural anomaly of the flat, thickened layer of ectodermal cells in the neuroectodermal area of the embryo's dorsal surface that develops into the neural tube and neural crest
thyroid hypoplasia Developmental hypoplasia of the thyroid gland.
ventricular fibrillation Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
abnormal immune system organ morphology any structural anomaly of lymphoid organs
decreased trabecular bone thickness thinner than normal bone with a lattice-like or spongy structure
abnormal right lung middle lobe morphology
mitral valve regurgitation
absent horizontal cells absence of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina
abnormal survival deviation from the expected viability or life span of an organism
abnormal ovulation cycle any anomaly in the type of sexual cycle seen in female mammals, with physiologic changes in the endometrium that recur at regular intervals during the reproductive years
abnormal kidney collecting duct intercalated cell morphology any structural anomaly of any of the functionally distinct subtypes of cells (alpha or beta) found on the kidney collecting duct epithelium that regulate acid-base homeostasis and play an important role in the kidney's response to acidosis and alkalosis; alpha-intercalated cells secrete acid whereas beta-intercalated cells secrete base; metabolic acidosis results in the conversion of beta- cells to alpha-intercalated cells giving the kidney a greater ability to secrete protons and return pH to the normal range
abnormal liver size anomaly in the average size of the liver
abnormal mucociliary clearance anomaly in the mechanism that removes mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands
decreased saturated fatty acid level reduced concentration of saturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; saturated fatty acids commonly have a chain of 4 to 28 carbons which contains no ethylenic or other unsaturated linkages between carbon atoms
decreased trabecular bone volume decrease in the amount of space occupied by trabecular bone tissue in the skeleton
abnormal hyoid bone body morphology any structural anomaly of the main curve of the hyoid bone, from which the horns extend
abnormal pancreatic beta cell mass anomaly in the total physical bulk or volume of a pancreatic beta cell compared to the normal state
abnormal lung epithelium morphology any structural anomaly of the epithelial layer of the lung
abnormal transitional stage t1 b cell morphology any structural anomaly of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative
abnormal zona fasciculata morphology any structural anomaly of the wide middle zone of the adrenal cortex that produces cortisol (hydrocortisone)
abnormal primary vitreous morphology any structural anomaly in the fibrovascular mesodermal tissue located between the optic cup and lens vesicle that normally regresses during the development of the vitreous body
absent urinary bladder absence of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys
abnormal vitamin absorption any anomaly in the ability to take in any of a group of organic substances, present in food, that are essential to normal metabolism
decreased digestive secretion reduction in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system
atrial septal defect Xref MGI.
abnormal pulp cavity morphology any structural anomaly of the central hollow space of a tooth
decreased plasma cell number reduced number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin
abnormal dosage compensation anomaly in the process of compensating for the two-fold variation in X:autosome chromosome ratios between sexes by a global activation or inactivation of all, or most of, genes on one or both of the X chromosomes
abnormal lymphatic vessel morphology any structural anomaly of the network of vessels which carries lymph around the body
abnormal cellular extravasation any anomaly in the migration of leukocytes from the blood vessels into the surrounding tissue
abnormal myeloid leukocyte morphology any structural anomaly of a cell of the monocyte, granulocyte, or mast cell lineage
abnormal interferon secretion anomaly in the production or release of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions
abnormal motor nerve collateral sprouting aberrant response of a motor neuron to form new neuritic processes (sprouts) that emerge from the nodes of Ranvier or terminal arborizations in response to nerve injury (such as denervation), application of nerve toxin, or muscle inactivity (usually due to disease)
abnormal submandibular gland physiology any functional anomaly of either of the large major salivary glands situated beneath the mandible
abnormal skin condition any anomaly in the state or quality of the skin
abnormal testis physiology any functional anomaly of the male reproductive glands
abnormal mammary gland physiology any functional anomaly of the compound, alveolar and apocrine milk-secreting gland that lies within the breast
epidermal hyperplasia overdevelopment or increased size, usually due an increased number of cells in the epidermis
decreased liver regeneration less than the normal ability of liver to regenerate healthy tissue following partial hepatectomy
decreased respiratory mucosa goblet cell number reduced number of the cells of the respiratory epithelial lining that produce and secrete mucins
decreased systemic arterial blood pressure
abnormal glycogen homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of glycogen, a readily converted carbohydrate reserve found in most tissues of the body, especially liver and muscle
absent heartbeat lack of a spontaneously beating heart (usually due to defects in the calcium delivery mechanism or loss of a functional contractile apparatus)
inner cell mass degeneration a retrogressive impairment of function or destruction of the cells of the blastocyst that develop into the body of the embryo
abnormal dosage compensation, by inactivation of x chromosome anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex
abnormal pancreatic duct morphology any structural anomaly of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum
abnormal ovary size anomaly in the average size of the female reproductive gland containing the germ cells
abnormal oogenesis atypical formation or failure to form the female germ cells
hindbrain hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived
abnormal paired-pulse facilitation defects in the enhanced response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus
abnormal pulmonary vascular resistance deviation from the normal force opposing blood flow in the lung blood vessels
absent retinal ganglion layer absence of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain
small proamniotic cavity reduced size of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds
increased leukemia incidence
nuclear cataracts a lens opacity located in the dense, central part of the lens
ventricular septal defect A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
abnormal manchette morphology any structural anomaly of the conic array of microtubules that invests the posterior nucleus of a spermatid, and is believed to play a role in definitive posterior head-shaping events during spermiogenesis
abnormal mitochondrial proliferation anomaly in the expansion rate of the cellular organelles responsible for energy production by division
decreased vitamin d level reduced level of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3)
increased urine insulin level a greater amount of insulin in the urine compared to the normal state
inner ear cysts abnormal membranous sacs in any component of the labyrinth, including the semicircular canals, vestibule and cochlea
rough coat coat does not have the usual smooth appearance
decreased susceptibility to induced joint inflammation reduced or absent inflammatory response in the joints due to chemical or mechanical agents
megacephaly
decreased pulmonary endothelial cell surface reduced total area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell
large lymphoid organs increased size of lymphatic tissues
decreased body length decreased measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction
abnormal peripheral nervous system regeneration changes in the ability or inability of healthy peripheral nervous system tissue to regenerate following injury or disease
abnormal thromboxane level anomalous concentration in the body of any of several compounds, originally derived from prostaglandin precursors in platelets, that stimulate aggregation of platelets and constriction of blood vessels
absent estrous cycle failure of female animals to enter or progress through the estrous cycle
abnormal type iv hypersensitivity reaction anomaly in an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact
abnormal neuron number anomaly in the number of the cells of the nervous system that receive, conduct, and transmit impulses
absent magnocellular neurosecretory cells absence of the cells residing mainly in the hypothalamic supraoptic and paraventricular nuclei and in a number of smaller accessory cell groups between these two nuclei, and secrete the hormones oxytocin and vasopressin
increased lumbar vertebrae number increased number of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae
abnormal brown adipose tissue amount anomaly in the thermogenic form of adipose tissue that is composed of brown adipocytes
abnormal conotruncal ridge morphology any structural anomaly of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum
abnormal brain white matter morphology any structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites
increased mammary gland ductal carcinoma incidence
abnormal bone structure Any anomaly in the composite material or the layered arrangement of the bony skeleton.
abnormal adaptive immunity anomaly in the function of the response of antigen-specific lymphocytes to antigen, including the development of immunological memory
aortic valve atresia A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.
abnormal cochlear endolymph ionic homeostasis anomaly in the state of equilibrium in the cochlear endolymph with respect to charged molecules; cochlear endolymph is not only an unusual extracellular fluid for its high potassium ion and low sodium ion concentration but also for its low calcium ion concentration, high HCO3- concentration and low protein content
abnormal spleen secondary b follicle morphology any structural anomaly of the nodules of antigen-activated, differentiating B cells, follicular dendritic cells, antigen-presenting T cells and macrophages in the spleen white pulp
dilated endolymphatic duct stretched or widened aperture of the luminal space of the endolymphatic duct
increased liver tumor incidence greater than the expected number of neoplasms in the liver, usually in the form of a distinct mass, in a specific population in a given time period
uterine hemorrhage presence of bleeding in the uterus; often in response to failed pregnancy
absent cerebellum vermis missing narrow middle zone between the two hemispheres of the cerebellum
abnormal female genitalia morphology any structural anomaly of the feminine organs of reproduction or generation, external or internal
decreased number of pulmonary neuroendocrine bodies reduction in the number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors
abnormal epicardium morphology any structural anomaly of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart
abnormal adrenergic neuron morphology any structural anomaly of the neurons which secrete norepinephrine as a neurotransmitter; adrenergic neurons are mostly sympathetic postganglionic nerves plus some within specific brainstem foci
short malleus manubrium reduced length of the handle of the malleus
abnormal penis morphology any structural anomaly of the organ of copulation and urination in the male
abnormal hair cycle telogen phase anomaly in the resting or quiescent phase of the hair growth cycle which follows cessation of proliferation (catagen) and precedes hair loss
heart vascular congestion obstruction of the normal flux of blood within the blood vessel network of the heart
abnormal sperm capacitation anomaly in the change undergone by spermatozoa in the female genital tract that enables them to penetrate and fertilize an egg
absent salivary gland missing any of the saliva-secreting glands of the oral cavity
gastrointestinal hemorrhage Hemorrhage affecting the gastrointestinal tract.
decreased pancreas weight reduction in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream
abnormal prostate gland weight anomaly in the average weight of the gland in males that secretes part of the seminiferous fluid
abnormal partial thromboplastin time Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.
phenotypic reversion wild-type phenotype restored from a previously characterized mutant phenotype
enlarged tectum increased size of the rostral part of the midbrain roof
lacrimal gland inflammation
absent petrosal ganglion absence of the lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve
abnormal circulating prothrombin level anomaly in the blood level of an inactive plasma serine protease precursor produced in the liver in the presence of vitamin K which is proteolytically cleaved into active thrombin by the action of various components (as thromboplastin) of the coagulation cascade
visceromegaly Abnormal increased size of the viscera of the abdomen.
microcytic anemia OMIM mapping confirmed by DO. [SN].
increased left ventricle developed pressure increase in the difference between left ventricular systolic and diastolic pressures
absent transitional stage b cells absence of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection
abnormal scala media morphology any structural anomaly of the division of the spiral canal of the cochlea that contains the organ of Corti (the neuroepithelial receptor organ for hearing)
defective assembly of class i molecules impaired production of major histocompatibility complex class I molecules
increased sacral vertebrae number increase of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae
abnormal lymphocyte cell number deviation from the normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells
abnormal basicranium morphology any structural anomaly of the sloping floor of the cranial cavity that is comprised of parts of the ethmoidal, occipital and sphenoid bones
abnormal pancreas regeneration deviation from the normal ability of the pancreas to regenerate healthy tissue following injury
enlarged liver sinusoidal spaces larger than normal sized blood-filled cavities in the liver
increased circulating transferrin level elevated concentration in the blood of a plasma protein that reversibly binds and transports iron and other metal ions through the blood to the liver, spleen and bone marrow
abnormal conjunctiva goblet cell morphology any structural anomaly of a goblet cell that is part of the epithelium of the conjunctiva, and is the source of tear mucins which are secreted from it
abnormal muscle cell glucose uptake anomaly in the ability of muscle cells to take in glucose
small gallbladder reduced size of the gall bladder, the organ that serves as a storage reservoir for bile
altered susceptibility to parasitic infection a change in the likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by a parasite
bowed humerus A bending or abnormal curvature of the humerus.
absent metanephric mesenchyme absence of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing metanephros; normally, interactions between the ureteric bud and the metanephric mesenchyme lead to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue
abnormal common myeloid progenitor cell morphology any structrual anomaly of the hematopoietic stem cells that are capable of forming any of the myeloid lineage cells (erythrocytes, granulocytes, thrombocytes, monocytes, and mast cells) but not cells of the lymphoid lineage
spermatic granuloma a granulomatous nodular lesion that appears in the region of epididymis and can be large enough to totally occlude the epididymal lumen; sperm granulomas are rounded or irregular in shape, and contain dense aggregates of immune cells and degenerating sperm resulting from an autoimmune response against sperm-associated antigens exposed following biochemical or surgical insult (e.g. vasectomy) to the epididymal epithelium
increased platelet cell number
decreased cd8-positive, alpha-beta t cell number reduction in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions
brain vacuoles the abnormal presence of cavities or fluid-filled vesicles in the soma of brain cells, often indicative of spongiosis or other pathological states
hemothorax The presence of blood in the pleural space.
enlarged liver Abnormally increased size of the liver.
optic nerve degeneration retrogressive pathologic change of the optic nerve
increased circulating creatine kinase level an elevation in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
decreased renal glomerular filtration rate less than the normal volume of water filtered out of the plasma through glomerular capillary walls into the Bowman's capsule per unit time
increased atrioventricular cushion size larger than normal mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal
abnormal crypts of lieberkuhn morphology any structural anomaly of the tubular intestinal glands found in the mucosal membranes
abnormal medulla oblongata morphology any structural anomaly in the most caudal region of the brainstem that lies directly rostral to the spinal cord; includes regions responsible for autonomic functions such as digestion, breathing and control of heart rate
small cochlear ganglion reduced size of the cochlear ganglion or of the sensory neuron cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)
duodenal lesions focal pathological changes characterized by alteration in the size, shape and organization of the cellular components of the duodenum epithelium tissue
enhanced nmda-mediated synaptic currents increase in the measured amplitude, current density or duration of response to stimulation of NMDA receptors
abnormal cementum morphology any strucutral anomaly in the bonelike rigid connective tissue covering the root of a tooth
decreased aggression towards mice when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards other mice
abnormal branching involved in terminal bronchiole morphogenesis anomaly in the process in which the branched structure of the terminal bronchioles are generated and organized
abnormal male reproductive system physiology An abnormal functionality of the male genital system.
decreased oligodendrocyte number reduced number of cells of the central nervous system that form the insulating myelin sheath of axons in the CNS
collapsed reissner membrane the Reissner's membrane, which normally separates the scala media from the scala vestibuli, has collapsed onto the spiral limbus and the tectorial membrane of the organ of Corti
abnormal olfactory bulb layer morphology any structural anomaly of the laminar structure of the forebrain region that coordinates neuronal signaling involved in the perception of smell
ureterovesical junction obstruction a partial or total blockage of the valve-like structure found at the site of entry of the ureter into the urinary bladder
abnormal blood cell physiology aberrant measurable or observable characteristic related to the function of or processes in any of the cells found in the blood
abnormal uterus morphology any structural anomaly of the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth
increased pancreatic islet number increase in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas
broad nasal bridge Increased breadth of the nasal bridge (and with it, the nasal root).
abnormal sweat gland morphology any structural anomaly of any of the coil glands of the skin that secrete sweat
abnormal paranasal sinus morphology any structural anomaly of the paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity
reddish skin
midface hypoplasia Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
small malleus reduced size of the largest of the three auditory ossicles, which resembles a club or hammer
disorganized yolk sac vascular plexus derangement in the pattern of the primary (honeycomb-like) vasculature of the yolk sac prior to remodeling into a mature vascular network
abnormal metanephric ureteric bud development any anomaly in the development of the portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros
impaired social transmission of food preference defect in the ability to recall and prefer foods associated with odors recently smelled on the breath of other mice; an indicator of defects in learning and memory of olfactory cues
abnormal olfactory bulb mitral cell layer morphology
paternal imprinting establishment of heritable alterations in the activity of a gene that depend on whether it passed through the paternal germline, but that are not encoded by DNA itself
decreased circulating magnesium level
delayed hepatic development late onset of the induction and/or differentiation of the liver
right aortic arch Aorta descends on right instead of on the left.
abnormal thyroid follicle morphology any structural anomaly of the small spherical vesicular components of the thyroid gland that are lined with epithelium and contain a colloid substance that both serves as a reservoir of materials for thyroid hormone production and stores thyroid hormones
tail necrosis morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage
bergmeister's papilla a posterior remnant of the fetal hyaloid artery that arises from the center of the optic disc and consists of a small tuft of fibrous tissue
increased susceptibility to atherosclerosis more likely than normal to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries
delayed heart looping late onset of the initiation and/or completion of looping of the primitive heart tube
absent cochlear hair bundle ankle links absence of the long, single-stranded filaments that form a dense web or mesh around the base of cochlear hair bundles just above the region in which the stereocilia begin to taper down
decreased a wave amplitude reduction in the size (height or maximum displacement) of the a wave as measured in the electroretinogram
abnormal platelet physiology
abnormal nk t cell number deviation from the normal number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments
abnormal microglial cell activation any anomaly in change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form
increased susceptibility to type i hypersensitivity reaction greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks
decreased skeletal muscle fiber density decrease in the number of skeletal muscle fibers in a given cross-sectional area of a skeletal muscle
abnormal action potential change in the electric response of a nerve or other excitable tissue to its stimulation
decreased circulating gastrin level reduced concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters
abnormal dorsoventral coat patterning irregular or unusual pigmentation pattern of the dorsal-to-ventral axis compared to control animals
increased kidney apoptosis increase in the number of cells of the kidney undergoing programmed cell death
abnormal third ventricle morphology any structural anomaly of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina
impaired behavioral response to morphine decreased sensitivity to morphine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response
aberrant origin of the right subclavian artery the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta
abnormal amniotic fluid composition any alteration in the expected chemical makeup of the watery liquid within the amnion that surrounds and cushions a growing fetus; normally, early in gestation, amniotic fluid is similar to maternal plasma, mainly water with electrolytes, and later in gestation, proteins, carbohydrates, lipids, phospholipids originating from the lungs, fetal cells, and urea are deposited in the fluid
decreased lymph node number fewer than the normal number of lymph nodes
abnormal trabecular bone thickness anomaly in the width of bone that has a lattice-like or spongy structure
decreased circulating ketone body level less than the normal amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acteone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus
increased colonic adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the colon, occurring in a specific population in a given time period
kinked sperm flagellum a sharp bend or zigzag in the sperm tail
abnormal schwann cell physiology any functional anomaly of the cells which form the insulating myelin sheaths of peripheral axons
abnormal interleukin-23 secretion anomaly in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells
decreased behavioral withdrawal response decrease in the intensity or duration of behaviors displayed after discontinuation of an addictive substance
absent optic placodes absence of the paired thickenings of surface ectoderm that normally become invaginated to form the embryonic lens vesicles
pulmonary valve stenosis
failure of blastocyst to hatch from the zona pellucida the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation, fails to occur
abnormal claudius cell morphology any structural anomaly in the columnar cells located on the floor of the ductus cochlearis external to the spiral organ (also known as the organ of Corti)
abnormal respiratory quotient anomaly in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls
abnormal aortic valve anulus morphology any structural anomaly of the fibrous ring of the aortic valve that attaches the cusps of aortic valve to the wall of left ventricle, and which consists of portions of the fibrous scallops of the posterior, right anterior and left anterior cusps
increased otic epithelium apoptosis
abnormal cd4-positive, alpha beta t cell morphology any structural anomaly of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production
proportional dwarf abnormally undersized with both limbs and trunk symmetrically shorter; usually due to chemical, endocrine, nutritional or nonosseous influences
intervertebral disk hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the cartilaginous and gelatinous structure found between vertebrae
kidney cortex atrophy
abnormal circulating sodium level any anomaly in the concentration in the blood of sodium, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume
increased stomach ph change in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, such that the acidity is decreased, as indicated by the decreased concentration of hydrogen ion
lymph node hypoplasia Underdevelopment of the lymph nodes.
decreased triiodothyronine level reduced amount of a thyroid hormone that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland
abnormal circulating magnesium level any anomaly in the blood concentration of magnesium
abnormal neuronal stem cell self-renewal any anomaly in the process by which stem cells divide and proliferate to make more stem cells, perpetuating the stem cell pool; self-renewal is division with maintenance of the undifferentiated state
abnormal circulating transferrin level deviation from the normal concentration in the blood of a plasma protein that reversibly binds and transports iron and other metal ions through the blood to the liver, spleen and bone marrow
abnormal nucleus accumbens morphology any structural anomaly of the group of neurons located at the head of the caudate nucleus and anterior to the putamen; these neurons normally are involved in sensations of pleasure and reactions to addictive substances
decreased fatty acid level reduction in the concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated
absent hyoid bone greater horns absence of the larger and more lateral of the paired processes on either side of the hyoid bone
long nails increased length of the nails
abnormal cranial neural crest cell migration any anomaly in the migratory path of the cranial neural crest cells (NCCs), which originate in the anterior part of the developing embryo and reside between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordial; like their counterparts in the trunk, cranial NCCs contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage
absent z lines missing the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere
decreased length of long bones reduced end-to-end length of the several elongated bones of the extremities
increased organ of corti supporting cell number increased number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti
abnormal laryngeal muscle morphology any structural anomaly of the muscles associated with the larynx
increased glycerol level
increased plant sterol level
decreased dopamine level less than the normal amount of this catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary
abnormal liver copper level anomaly in the amount of copper present in the liver tissue
abnormal myelination Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.
abnormal hypaxial muscle morphology any structural anomaly of the muscles derived from the lateral myotome and lateral portion of the dermomyotome; these include the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue
abnormal appendicular skeleton morphology An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.
aortic valve stenosis An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve.
osseous metaplasia the formation of mature bone elements in the stroma of a neoplasm
abnormal airway responsiveness anomalous response in bronchial provocation tests
abnormal adipose tissue physiology any functional anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue
absent anterior definitive endoderm absence of the mesendoderm which first migrates from the node and which gives rise to the gut
abnormal anterior commissure morphology any structural anomaly of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle
decreased abdominal adipose tissue amount reduction in amount of adipose tissue associated with internal organs
decreased circulating factor ix level
lordosis Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.
abnormal brainstem morphology
abnormal spleen germinal center morphology any structural anomaly of the area of the spleen secondary B follicle where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs
teratozoospermia A structural anomaly of sperm.
abnormal t cell activation anomaly in the process of producing effector T cells from naive T cells
decreased keratohyalin granule number reduced number of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function
increased circulating triiodothyronine level greater amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland
polycystic kidney
absent mandibular coronoid process absence of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion)
abnormal oxidative phosphorylation any anomaly in the process of phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain; oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis
decreased circulating chloride level
absent superior cervical ganglion lack of the group of neurons that is the largest of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck
decreased osteoid thickness reduction in the width of the layer of newly formed organic bone matrix secreted by osteoblasts
abnormal sperm connecting piece morphology any structural anomaly in the segment of the sperm flagellum that attaches to the implantation fossa of the nucleus in the sperm head; from the remnant of the centriole at this point, the axoneme extends throughout the length of the flagellum
abnormal endometrial gland development aberrant formation or incomplete differentiation of the simple or branched tubular glands found in the mucus membrane of the uterus
kidney corticomedullary cysts
increased bone resorption Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.
increased brain sterol level greater level in the brain of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated
abnormal mast cell number an anomaly in the number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation
abnormal pituicyte morphology any structural anomaly of the distinctive fusiform cells present in the pars nervosa of the posterior pituitary gland which resemble astrocytes/glial cells of the CNS and assist in the storage and release of neurohypophysial hormones
abnormal acute phase protein level deviation from the normal levels of the series of proteins found in the blood shortly after infection and which participate in the early phases of host defense against infection
abnormal grip strength altered ability to grasp and hold objects, often measured as time spent hanging from an object or wire
abnormal subthalamus morphology any structural anomaly of the anterior part of the diencephalon that lies between the thalamus, hypothalamus, and tegmentum of the mesencephalon, including subthalamic nucleus, zona incerta, the fields of Forel, and the nucleus of ansa lenticularis
increased colon adenocarcinoma incidence
enlarged sebaceous gland increased size of the sebum secreting glands of the hair shaft
absent eyelids Absent eyelids.
abnormal extrahepatic bile duct morphology any structural anomaly of the passages external to the liver for the conveyance of bile
hydrometrocolpos Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.
decreased skin turgor reduced ability of the skin to resist deformation; influential factors include dehydration and age
myocardial necrosis
increased hepatobiliary system tumor incidence greater than the expected number of tumors originating in the hepatobiliary system in a given population in a given time period
absent mature gamma-delta t cells absence of a mature T cell expressing an gamma-delta T cell receptor complex
abnormal hypoglossal nerve morphology any structural anomaly of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue
abnormal limb position anomaly in the location of the limbs on the body relative to other body parts or axes
clubfoot OMIM mapping confirmed by DO. [SN].
adenohypophysis peliosis presence of cyst-like blood-filled lakes or cavities (extravasated erythrocytes not contained in capillaries) within the anterior lobe of the pituitary gland
fused synovial joints partial or complete absence of separations containing synovial fluid between bones
hyporesponsive to tactile stimuli reduced reflex action normally induced by touch or pain
abnormal pterygoid muscle morphology any structural anomaly of the muscles descending from the sphenoid bone to the lower jaw including the internal, or medial, pterygoid muscle and external, or lateral, pterygoid muscle; the action of the former is closing the jaws and that of the latter is opening the jaws, protruding the mandible, and moving the mandible from side to side
decreased interleukin-2 secretion reduction in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes
decreased t-helper 17 cell number reduced number of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17
abnormal thymus physiology any functional anomaly of the primary lymphoid organ that is required for immune system development
abnormal hair cell physiology any functional anomaly of the sensory epithelial cells of the inner ear
decreased amacrine cell number reduction in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina
increased thyroid adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the thyroid gland, occurring in a specific population in a given time period
abnormal circulating interleukin-17 level anomaly in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors
anisocytosis Abnormally increased variability in the size of erythrocytes.
ocular hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
decreased prostate gland weight reduction in the average weight of the gland in males that secretes part of the seminiferous fluid
abnormal platelet dense granule morphology any structural anomaly of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin
abnormal urine bicarbonate level any change in the amount of bicarbonate in the urine
split cervical atlas the first (topmost, C1) cervical vertebra is divided into two branches by a median cleft
abnormal male preputial gland morphology any structural anomaly of the paired, lobulated, modified sebaceous glands of the corona, the neck of the glans penis, and the inner surface of the prepuce with pheromonal functions in male rodents; male preputial secretions strongly attract females, may accelerate estrus, and have been implicated in intermale aggression; homologous to the clitoral glands (aka female preputial glands) in female rodents; there is no true anatomical equivalent in humans
absent respiratory motile cilia absence of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract
abnormal macrophage morphology any structural anomaly of the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells
increased retroperitoneal fat pad weight greater than average weight of the encapsulated adipose tissue found on the dorsal side of the peritoneum
increased organ/body region tumor incidence greater than the expected number of tumors originating in a specific body region or organ in a given population in a given time period
hemosiderosis An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload.
broad head a greater ear- to -ear distance resulting in the appearance of a wide face and a flattened snout
delayed bone ossification late onset of the formation of bone
abnormal neuronal stem cell physiology any functional anomaly of an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors
reduced long term potentiation less than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells
calcified retina
abnormal retinol metabolism altered ability to metabolize retinol, which plays an essential role in metabolic functioning of the retina, and growth of and differentiation
abnormal skin exfoliation anomaly in the process of detachment and shedding of superficial cells of a skin epithelium
decreased atrioventricular cushion size smaller than normal mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal
alkalosis Depletion of acid or accumulation base in the body fluids.
abnormal cochlear inner hair cell physiology any functional anomaly in processes pertinent to the function of cochlear IHCs which constitute the true sensory cell type sending impulses via the cochlear (auditory) nerve
abnormal ejaculation Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.
muscle spasm an involuntary and often painful muscle contraction or cramps having a number of causes ranging from nutritional deficiency to serious nervous system conditions
enhanced avoidance learning behavior enhanced ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus
hydropic eye lens fibers swollen cortical fibers of the eye lens
abnormal liver zinc level anomaly in the amount of zinc present in the liver tissue
abnormal circulating atrial natriuretic factor level deviation from the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator
increased hematopoietic stem cell proliferation increase in the expansion rate of a hematopoietic stem cell population by cell division
adrenal gland hyperplasia overdevelopment or increased size, usually due to a increased number of cells, of the endocrine glands located above the kidney and responsible for hormone and epinephrine secretion
decreased acute inflammation less than the expected early reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response
abnormal hearing physiology any functional anomaly in the ability to perceive auditory stimuli
lowered ear position outer ears are situated below the normal location often giving the perception of protruding from the head
abnormal extraembryonic tissue morphology any structural anomaly of the membranes involved with embryonic protection and nutrition
absent limbs absence of the projecting paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm and/or legs in mammalian species
abnormal cd4-positive, alpha-beta t cell physiology any functional anomaly of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production
kidney atrophy
abnormal cell morphology any structural anomaly of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms
abnormal exoccipital bone morphology any structural anomaly of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young
decreased circulating gonadotropin level less than the normal blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis
absent epiglottis missing the most superior of the laryngeal cartilages, which is normally found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink
short metestrus decrease in the length of the metestrous phase of the estrous cycle in female animals
abnormal aortic weight anomaly in the average weight of the aorta
partial embryonic lethality before implantation the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and implantation (Mus: E0 to less than E4.5)
abnormal brown adipose tissue thermogenesis any anomaly in the process of heat production in brown adipocytes
fused first pharyngeal arch the first arch fails to fully divide along the midline
increased aggression towards mice when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward other mice
increased spongiotrophoblast size greater size of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors
abnormal eyelid aperture any anomaly in the normal distance from one eyelid to the other, or closure of the eyes
abnormal olfactory epithelium physiology any functional anomaly in the epithelial cells that line the interior of the nose
aortic arch hypoplasia underdevelopment or reduced size of the aortic arch, usually due to reduced cell number
enlarged heart right atrium increased size of the right upper chamber of the heart
optic nerve coloboma congenital defect of the optic nerve in which some part of the structure is absent
pituitary intermediate lobe hypoplasia underdevelopment or reduced size, usually due to a reduced cell number, of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults
abnormal kidney cell proliferation anomaly in the ability of any kidney cell population to undergo expansion by cell division
abnormal nasal pit morphology any structural anomaly of one or both of a pair of depressions formed in the developing face that give rise to the rostral portion of the nasal meatus; the nasal pits indent the fronto-nasal process and divide it into a medial and two lateral nasal processes
abnormal minor salivary gland morphology any structural anomaly of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands
increased catalase activity greater ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O
increased susceptibility to experimental autoimmune uveoretinitis greater likelihood that an organism will develop disease symptoms similar to human sight-threatening inflammatory eye diseases upon induction by peripheral immunization with one of several uveitogenic retinal proteins (or with peptides derived from them), or by the adoptive transfer of lymphocytes specific to these antigens
abnormal artery morphology any structural anomaly of the blood vessels that carry blood away from the heart
abnormal extracellular matrix morphology any structural anomaly of the structure lying external to one or more cells, which provides structural support for cells or tissues; in mammals, the extracellular matrix is completely external to the cell
decreased creatine kinase level decreased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
abnormal olfactory bulb glomerular layer morphology
abnormal transforming growth factor beta level abnormal concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function
abnormal organ of corti supporting cell differentiation atypical production of or inability to produce the highly differentiated epithelial cells with distinctive morphological features that surround the hair cells in the organ of Corti
early vaginal opening the opening of the genital canal in a female occurring at an earlier than expected age
decreased adrenal gland weight reduced average weight of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla
hemoglobinemia the presence of free hemoglobin in the blood plasma, an indication of significant intravascular hemolysis
failure of heart looping failure of the primitive heart tube to loop asymmetrically during early development
thin vestibular hair cell stereocilia reduced thickness of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern
abnormal cerebellar lobule formation anomaly in the formation of the lobes of the cerebellum
abnormal social investigation altered behavior of animals to approach and examine other animals
abnormal renal sodium reabsorbtion any anomaly in the process by which sodium ions are transported out of the renal tubules back into the bloodstream
impaired neural crest cell differentiation abnormal or arrest of differentiation of the transient and highly migratory group of cells that delaminate in early embryonic development from the dorsal neural tube and give rise to a variety of differentiated cell types
absent visceral yolk sac absence of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo
misaligned sternebrae abnormal alignment of the sternebrae along the ventral midline
white spotting the appearance of patches of white fur
increased susceptibility to autoimmune diabetes greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas
respiratory distress
cardiac fibrosis formation of fibrous tissue within the heart often resulting from inflammation or injury
anterior subcapsular cataracts a lens opacity localized beneath the anterior lens capsule
abnormal esophageal squamous epithelium morphology any structural anomaly of the scaly epithelial layer of the esophagus
increased haptoglobin level increased amount of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity
abnormal branching involved in bronchus morphogenesis anomaly in the process in which the branched structure of the bronchus is generated and organized
abnormal urinary bladder detrusor smooth muscle morphology any structural anomaly of the bundles of smooth muscle fibers forming the muscular wall of the urinary bladder, which are arranged in a longitudinal and a circular layer and, on contraction, serve to expel urine
abnormal alveolar pore morphology any structural anomaly of the openings in the alveolar septum that permit air flow between adjacent alveoli
short metatarsal bones reduced length of the five bones of the hindpaws that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges
anterior polar cataracts a lens opacity, usually disk-shaped, that is limited to an area in the anterior pole of the lens capsular region
abnormal liver bud morphology any structural anomaly of the liver primordium formed as hepatoblasts delaminate from the anterior portion of the hepatic diverticulum and invade the adjacent septum transversum mesenchyme
calcified aortic valve
abnormal muscle development any anomaly in the differentiation of muscle tissue
abnormal turbinate morphology any structural anomaly of the small curved bones that extends horizontally along the lateral wall of the nasal passage
abnormal lymph node secondary follicle morphology any structural anomaly of a lymph node primary follicle that has undergone antigenic challenge and is characterized by a ring of concentrically packed B lymphocytes surrounding a germinal center, which contains proliferating B cells, and a mantle area that contains nondividing B cells and some helper T cells with macrophages and follicular dendritic cells interspersed
abnormal endolymph any alteration in the normal production (volume) or ionic homeostasis of the fluid contained within the membranous labyrinth of the inner ear; unlike perilymph, endolymph resembles intracellular fluid in composition and has a high concentration of potassium ion and a low concentration of sodium ion
abnormal circulating interleukin-1 level anomaly in the amount in the blood of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens
abnormal chemical nociception abnormal capability to sense pain elicited by chemical stimulation
increased hemangioblast number increased number of the pluripotent precursor cells in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands
decreased urine prostaglandin level a reduced amount of any prostaglandin in the urine compared to the normal state
abnormal behavioral response to addictive substance any anomaly in the behavioral response induced by an addictive substance, such as induced hyperactivity or stereotypic behavior
abnormal uterine cervix morphology any structural anomaly of the lower opening of the uterus to the vagina
absent pharyngeal arch arteries absence of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels
decreased tear production decreased production of the amount of fluid produced in the eye
abnormal inhibitory postsynaptic currents defect in the size or duration of currents detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization
abnormal cell mass anomaly in the total physical bulk or volume of a cell compared to the normal state
decreased axial mesoderm size reduced size or deficiency of the part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord
abnormal cd4-positive, cd25-positive, alpha-beta regulatory t cell morphology A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.
decreased spleen white pulp amount reduction in the quantity of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies
abnormal kidney cortex artery morphology any structural anomaly of the network of tubes that supplies blood to the renal cortex
abnormal vertebral arch morphology any structural anomaly of the dorsal bony and/or cartilaginous part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process)
absent cerebellum vermis lobule ix missing triangular elevation on the vermis of the cerebellum
enhanced ampa-mediated synaptic currents increase in the measured amplitude, current density or duration of response to stimulation of AMPA receptors
abnormal acromion morphology any structural anomaly of the lateral end of the spine of the scapula which projects as a broad flattened process and articulates with the clavicle, and forms the point of the shoulder
enlarged placenta increased size of the size or shape of the organ of metabolic interchange between fetus and mother
increased glycosylated hemoglobin level greater than normal blood concentration of a modified form of hemoglobin with an attached saccharide molecule
decreased hepatoblast number reduced number of the bi-potent cells that retain the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into hepatocytes and cholangiocytes
temporal bone hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in the large, irregular bone located at the base and side of the skull
abnormal lymph node primary follicle morphology any structural anomaly of an unstimulated network of follicular dendritic cells and small resting B cells in the lymph node cortex
abnormal vitreous body morphology any structural anomaly of the transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina
increased oligodendrocyte progenitor number greater number of cells that differentiate into a type of glial cell in the central nervous system
absent facial nuclei missing nucleus of neurons in the hindbrain; receives fibers from the facial muscles, stapedus muscle and stylohyoid muscle
impaired behavioral response to anesthetic decrease or delay in the behavioral changes that follow exposure to a given amount of an anesthetizing agent
decreased mitochondrial dna content less than expected amount of DNA contained within the mirochondria of a eukaryotic cell
absent trigeminal nerve lack of the chief sensory nerve of the face and motor nerve of the muscles of mastication; has three major divisions: ophthalmic, maxillary and mandibular
enlarged lymph nodes
abnormal uterine angiogenesis any anomaly in vascular permeability and blood vessel development that normally occurs in the uterus to support embryonic growth during pregnancy
enlarged thymus increased size of thymus
decreased chondrocyte number fewer than normal numbers of polymorphic cells that form cartilage
abnormal cutaneous microfibril morphology any structural anomaly of the fiber-like strand of fibrillin that forms the scaffold of the cutaneous elastic fibers found in the extracellular matrix of the skin
abnormal double-strand dna break repair any annomaly in the process of repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix
reduced ampa-mediated synaptic currents reduction in the measured amplitude, current density or duration of response to stimulation of AMPA receptors
absent visceral yolk sac blood islands absence of the masses of developing blood cells attached to endothelium in the yolk sac
decreased sterol level reduction in the level of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated
abnormal line of schwalbe morphology any structural anomaly of the thickened peripheral margin of the vitreous membrane of the cornea
abnormal fear/anxiety-related behavior An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.
abnormal long bone diaphysis morphology any structural anomaly of the main or mid section (shaft) of a long bone
abnormal proerythroblast morphology any structural anomaly of the immature, nucleated erythrocyte precursors that give rise to reticulocytes and are derived from erythroid progenitor cells
increased hippocampus pyramidal cell number increased number of the multipolar projection neurons in the hippocampus pyramidal cell layer
increased urinary bladder transitional cell carcinoma incidence greater than the expected number of a malignant neoplasm of the transitional epithelial layer of the urinary bladder, occurring in a specific population in a given time period
absent inner cell mass proliferation
absent amacrine cells absence of the amacrine cells, which constitute one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer
abnormal circulating corticosterone level anomaly in the amount of the adrenocortical steroid in the blood that induces glycogen deposition and regulates sodium conservation and potassium secretion
unresponsive to tactile stimuli absence of reflex action normally induced by touch or pain
abnormal liver regeneration deviation from the normal ability of liver to regenerate healthy tissue following partial hepatectomy
embryonic lethality prior to organogenesis death prior to the completion of embryo turning (Mus: E9-9.5)
abnormal presphenoid bone morphology any structural anomaly of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult
anosmia An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
decreased circulating unsaturated transferrin level reduction in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test
increased t cell derived lymphoma incidence higher than normal incidence of a group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes
abnormal corneal stroma development anomalous differentiation of the lamellated connective tissue layer of the cornea
abnormal non-rapid eye movement sleep pattern any anomaly in the frequency or duration of the sleep stages characterized by distinct EEG patterns, decreased metabolic activity, slowed breathing and heart rate, and the absence of rapid eye movement and dreaming
pancytopenia
increased placental labyrinth size increase in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood
pituitary gland hypertrophy increase in the bulk size of the pituitary gland due to cell enlargement
testicular atrophy Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.
iris stroma hypoplasia underdevelopment or reduced size of the iris stroma, usually due to a reduced number of cells
premature suture closure
abnormal aorticopulmonary septum morphology any structural anomaly of the spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta
abnormal nerve fiber response threshold any change in the value at which a stimulus first elicits a recordable response recorded in a single or several nerve fiber(s)
abnormal urine amino acid level any anomaly in the amount in the urine of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group
poor grooming below average standard of cleaning and/or keeping outward appearance tidy (self, mate or offspring)
calcified intervertebral disk process in which the cartilaginous and gelatinous structure found between vertebrae becomes hardened due to deposits of calcium salts
abnormal spleen b cell follicle morphology any structural anomaly of the area of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur
kidney failure A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.
abnormal brain meninges morphology any structural anomaly in any of the membranes covering the brain, including the dura mater (external), arachnoid (middle), and pia mater (internal)
abnormal femoral fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the femur
abnormal glucokinase activity anomaly in the ability to catalyze the reaction: ATP + D-glucose = ADP + D-glucose-6-phosphate
increased tumor latency later onset of tumor occurrence than expected
absent brain internal capsule absence of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord
increased time of peak ischemic contracture increased duration of time from normal necessary to achieve full irreversible contraction of the cardiac muscle in response to myocardial infarction
dual inferior vena cava presence of two inferior vena cavae, often resulting from the persistence of both supracardinal veins during development; the two structures may be symmetric or asymmetric but typically join together at the renal vein
abnormal tooth mineralization abnormalities in the process by which calcium salts are deposited into the dental enamel, dentin and cementum
abnormal cardiovascular system morphology any structural anomaly of the heart or vascular tissue
abnormal aorta elastic tissue morphology any structural anomaly of the dense connective tissue which contains predominantly elastic fibers and is found in the tunica media of the aorta wall
intestinal hypoperistalsis
abnormal midbrain roof plate morphology any structural anomaly of the mesencephalic roof plate, including the caudal and rostral part of the midbrain roof
abnormal lipid metabolism any anomaly in the chemical reactions and pathways involving a lipid, including metabolic, catabolic and biosynthetic processes
decreased circulating alanine transaminase level decreased concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction
abnormal mitotic spindle morphology any structural anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during mitosis
increased response of heart to induced stress increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding
abnormal kidney venous blood vessel morphology any structural anomaly of the network of tubes that return blood from the renal tissues to the systemic circulation
small esophagus reduced size of the part of the digestive canal through which food passes from the pharynx to the stomach
abnormal cerebellum vermis lobule vi morphology
abnormal decidualization atypical cellular and vascular changes occurring in the endometrium of the pregnant uterus just after the onset of blastocyst implantation; this process involves the proliferation and differentiation of the fibroblast-like endometrial stromal cells into large, polyploid decidual cells that eventually form the maternal component of the placenta; expected changes include the eosinophilic proliferation around arterioles after ovulation or progesterone action on endometrium which increases glandular epithelial secretion, stimulates glycogen accumulation in stromal cell cytoplasm, and promotes stromal vascularity (spiral arterioles) and edema
abnormal cerebellum vermis lobule viii morphology
increased urine magnesium level
abnormal muller cell morphology any structural anomaly of the elongated neuroglial cells that traverse all the layers of the retina and that act as supporting elements
absent leydig cells lack of the interstitial cells of the seminiferous tubules that secrete testosterone
abnormal stapes footplate morphology any structural anomaly in the flat portion of the stapes that fits in the oval window
absent b-1 b cells
abnormal styloid process morphology any structural anomaly in the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments
spiral ligament degeneration degeneration or loss of the thickened periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches
integument phenotype the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands
abnormal dendrite morphology any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body
abnormal peritubular myoid cell morphology any structural anomaly of the flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule
abnormal cerebellum external granule cell layer morphology any structural anomaly of the transient layer of the cerebellar cortex present during development which is composed of the dividing and migrating granule cells
absent cochlear microphonics absence or loss of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound
lymph node hyperplasia Enlargment (swelling) of a lymph node.
increased b-1 b cell number
abnormal memory t cell physiology any functional anomaly of the set of long-lived T cells differentiated from T cells activated by a specific antigen encountered during a past immune response
absent rectum absence or loss of the terminal portion of the intestinal tube adjacent to the anus
interdigital webbing fold of skin, or web, between the toes that is not normally present
abnormal bilaminar embryonic disc any structural anomaly of the flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc
hyperdipsia intense thirst that is relatively temporary
hypertension Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.
abnormal accessory olfactory bulb morphology any structural anomaly of the forebrain region that coordinates sensory signaling arising from the vomeronasal organ; it is located on the dorsal-posterior portion of the main olfactory bulb, and the axons that leave the accessory olfactory bulb project to targets in the amygdala and hypothalamus
decreased liver copper level a reduced amount of copper in the liver tissue compared to controls
absent vestibular ganglion absence of the group of bipolar sensory nerve cell bodies concerned with equilibration that form a swelling on the vestibular part of the eighth cranial nerve in the fundus of the internal acoustic meatus
absent endolymphatic sac absence of the dilated blind extremity of the endolymphatic duct, which lies external to the dura on the posterior aspect of the petrous part of the temporal bone
abnormal seizure response to electrical stimulation anomaly in the seizure activity response that is brought about by high or low frequency electrical stimulation
abnormal sesamoid bone of gastrocnemius morphology any structural anomaly of the small sesamoid bones situated behind the condyles of the femur
increased cardiovascular system tumor incidence greater than the expected number of tumors originating in the cardiovascular system in a given population in a given time period
abnormal mitochondrial chromosome morphology any structrual anomaly of the chromosome found in the mitochondrion of a eukaryotic cell
abnormal molar crown morphology any structural anomaly of the part of a molar that is covered by enamel
abnormal adipose tissue development anomaly in the process of the formation of the connective tissue composed of fat cells enmeshed in areolar tissue
abnormal circulating unsaturated transferrin level any anomaly in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test
polyhydramnios A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac.
abnormal blastocoele morphology any structural anomaly the fluid-filled cavity of the blastocyst of the preimplantation embryo of mammals
abnormal oligodendrocyte physiology any functional anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS
absent hair follicle melanin granules absence of the pigment polymers located in the hair follicles
increased thyroid-stimulating hormone level greater amount of the hormone that stimulates the growth and function of the thyroid gland
short diestrus decrease in the length of the diestrous phase of the estrous cycle in female animals
abnormal urination pattern increased or decreased frequency of urination episodes, or extended periods of anuria
head spot the appearance of a round area of white fur on the head
decreased skeletal muscle weight less than average skeletal muscle weight
barrel chest A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.
abnormal extensor digitorum longus morphology any structural anomaly of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle
rib fusion Complete or partial merging of adjacent ribs.
decreased long bone epiphyseal plate size reduced size of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles
abnormal reticulocyte morphology any structural anomaly of immature erythrocytes characterized by a meshlike pattern of threads and particles at the former site of the nucleus
abnormal circulating pituitary hormone level aberration in the blood concentration of any of the hormones secreted by the pituitary
wide ribs Increased width of ribs.
abnormal liver physiology
increased prolactin level greater than expected concentration of the hormone that stimulates milk secretion
perimembraneous ventricular septal defect
brain vascular congestion obstruction of the normal flux of blood within the blood vessel network of the brain
abnormal pancreas morphology
increased hepatoma incidence greater than the expected number of malignant tumors composed of neoplastic liver cells in a specific population in a given time period
decreased corticospinal tract size reduced size of the corticospinal fibers that arise from the pyramidal cells within the cerebral cortex layer V of the precentral motor area, the premotor area and the postcentral gyrus, then descend into and through the medulla to form the lateral corticospinal tract and the anterior corticospinal tract
abnormal vertebrae development anomalous formation of the vertebrae from the sclerotome
decreased bone mineral density Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value.
abnormal nasal bone morphology any structural anomaly of either of two rectangular bone plates forming the bridge of the nose
abnormal ureter morphology any structural anomaly of the tube that conducts the urine from the renal pelvis to the bladder
abnormal amygdala morphology any structural anomaly of the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe; this area is involved in aggression and fear responses
decreased body mass index less than normal average of a measure of weight for height
renal ischemia inadequate blood flow to one or both kidneys, or nephrons, usually due to functional constriction or actual obstruction of a blood vessel; a significant cause of renal dysfunction and cortical and medullary necrosis
decreased pulmonary vascular resistance less than the normal force opposing blood flow in the lung blood vessels
decreased otic epithelium proliferation reduction in the expansion rate of the otic epithelial cell population by cell division
thick myocardium increased thickness of the heart muscle layer
abnormal hippocampus development improper differentiation of the hippocampus
abnormal ph regulation anomaly in the function of the buffer systems of the body in combination with the respiratory and renal systems that control the relative acidity or alkalinity of the body, as measured by the concentration of hydrogen ion
abnormal t follicular helper cell morphology any structural anomaly of a CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cell located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production
absent glossopharyngeal nerve absence of the sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue; the branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion
decreased t cell proliferation reduction in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli
small otic capsule reduced size of the cartilage or bony capsule surrounding the inner ear mechanism
phototoxicity condition caused by overexposure to UV light or from the combination of exposure to specific wavelengths and a phototoxic substance
small lymph nodes Underdevelopment of the lymph nodes.
decreased keratohyalin granule size reduced size of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function
absent p wave absence of the P wave which represents atrial depolarization and corresponds to electrical impulses rather than mechanical atria contractions
increased spleen germinal center size greater size of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs
increased urine glucose level
arrested t cell differentiation failure of T cell formation to proceed past a defined stage
abnormal cilium morphology any structural anomaly of the specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface; each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole
ischium hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis
other aberrant phenotype anomaly or dysmorphology not attributable to any other category
abnormal brain iron level any anomaly in the amount of iron present in the brain tissue
abnormal stellate ganglion morphology any structural anomaly of the group of neurons formed by the fusion of the inferior cervical and first thoracic ganglia
abnormal uterus size anomaly in the size of the female organ of gestation
absent retinal inner plexiform layer absence of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites
abnormal retinal neuronal layer morphology any structural anomaly of any of the neuronal layers that make up the retina, including the ganglion cell, inner plexiform, inner nuclear, outer plexiform, outer nuclear layers, the inner and outer segments
absent hypodermis muscle layer absence of the skeletal muscle layer in the superficial fascia
abnormal subcommissural organ morphology any structural anomaly of the circumventricular organ derived from ependymal cells that is located at the junction of the third ventricle and the cerebral aqueduct and which secretes somatostatin
abnormal thrombopoiesis abnormal development of the non-nucleated cells of the blood (platelets, thrombocytes) involved in blood coagulation
absent mullerian ducts absence of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina
increased circulating interleukin-17 level increase in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors
caudal vertebral transformation homeotic transformation of any caudal vertebrae to adopt the fate of another vertebrae
abnormal olfaction anomaly in the ability to smell
decreased urine major urinary protein level reduced amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine
abnormal sebaceous gland morphology any structural anomaly of the holocrine glands that secrete sebum into the hair follicles or in hairless areas into ducts
altered susceptibility to autoimmune disorder a change in the likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides
partial lethality at weaning the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at weaning age
abnormal pancreatic endocrine progenitor cell physiology any functional anomaly of a multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells
abnormal vertebrae morphology any structural anomaly of the bony segments of the spinal column
abnormal urine protein level anomaly in the amount of protein in the urine
ocular rupture tearing of the tissues of the eye
urethritis
decreased integument system tumor incidence less than the expected number of tumors originating in the integument system in a given population in a given time period
increased ige level An abnormally increased level of immunoglobulin E in blood.
decreased intestinal cholesterol absorption reduced ability of the body to take up cholesterol into the blood by absorption from the small intestine
abnormal vestibuloocular reflex An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.
abnormal vascular development aberrant process of vascular formation
abnormal podocyte slit diaphragm morphology any structural anomaly of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream
periodontal ligament hypercellularity increased cell density of the periodontal ligament
increased urine prostaglandin level
thin dermal layer reduced thickness of the dermis
enlarged peyer's patches increased size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles
epidermal cyst a benign mass derived from the epidermis or the epithelium of a hair follicle, formed by enclosure of epithelium within the dermis and filled with keratin and lipid-rich inclusions
abnormal osteoclast differentiation atypical production of or inability to produce the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue
iris synechia an adhesion (synechia) of the iris to the cornea or lens of the eye that may develop from glaucoma, cataracts, uveitis, or keratitis or as a complication of surgery or trauma to the eye; synechiae may prevent or impede flow of aqueous fluid between the anterior and posterior chambers of the eye, resulting in angle closure glaucoma
abnormal vestibular hair bundle inter-stereocilial links any structural anomaly in the morphologically and biochemically distinct link types that extend between the stereocilia of vestibular hair bundles
decreased vagina weight decrease in the weight of the female reproductive canal located between the uterus and the vulva
amacrine cell degeneration a retrogressive impairment or destruction of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer
increased spleen red pulp amount increase in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation
abnormal interleukin-13 secretion anomaly in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses
hemolysis
absent brain ventricles absence of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord
enhanced behavioral response to alcohol increased sensitivity to alcohol resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response
abnormal distal convoluted tubule morphology any structural anomaly of the convoluted portion of the duct system of the nephron between the ascending portion of the loop of Henle and the collecting duct system in the kidney cortex; it is partly responsible for the regulation of potassium, sodium, calcium, and pH through the endocrine system
abnormal circulating aldosterone level anomaly in the blood concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule
esophageal inflammation
abnormal proestrus any anomaly or aberrant timing of the first phase of the estrous cycle which begins when a new batch of eggs reach maturity within ovarian follicles that are ripe and large; external examination of the female usually shows a bloated vulva with an open vagina
abnormal plasma membrane sphingolipid content altered amounts of the phospholipids found especially in, but not limited to, the cell membrane of nerve tissue that yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis
abnormal triglyceride level any anomaly in the concentration of triglyceride, a glycerol esterified at each of its three hydroxyl groups by a fatty acid; triglyceride is an important molecule for storage of fatty acids in adipose tissue
abnormal ventral ectodermal ridge morphology any structural anomaly of the morphologically distinct group of ectodermal cells that serves as an important signaling center in the mouse tail-bud following completion of gastrulation, and contains progenitor cells that contribute to the ventral midline ectoderm of the tail; ablation of the VER leads to defects in somitogenesis and tail elongation
oviduct hypoplasia
increased bone mineral content elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area
non-obstructive hydrocephaly
abnormal macrophage activation involved in immune response anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response
open neural tube failure of completion of the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline
abnormal mandible morphology any structural anomaly of the lower bony framework of the mouth where the inferior teeth are held
abnormal cell migration any anomaly in the movement of cells from one site to another, often occurring during developmental or chemotactic processes
abnormal ear physiology any functional anomaly of the ear, not due to an anatomical defect
abnormal cd8-positive, alpha-beta t cell differentiation atypical production of or inability to produce the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions
abnormal creatine level anomaly in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized
decreased extensor digitorum longus weight reduction in the weight of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle
abnormal pancreatic acinus morphology any structural anomaly of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct
abnormal sebaceous lipid secretion abnormal function of the sebaceous gland resulting in changes to the lipid profile secreted onto the hair and skin
thin hair shaft the average diameter of coat hair is less than the average diameter of hair from normal individuals
abnormal hypodermis muscle layer morphology any structural anomaly of the skeletal muscle layer in the superficial fascia
aorta pulmonary collateral arteries small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus
short photoreceptor outer segment decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin
abnormal kidney capsule morphology any structural anomaly of the tough fibrous layer surrounding the kidney which is covered in a thick layer of perirenal adipose tissue that functions to provide some protection from trauma and damage
increased circulating total protein level
increased mortality induced by ionizing radiation greater sensitivity to doses of ionizing radiation that include ultraviolet light, X-rays, or gamma rays, resulting in death
distended stomach an expansion in the volume of the sac-like structure of the digestive canal between the esophagus and the small intestine, as by stretching or distention
colonic necrosis morphological changes resulting from pathological death of some or all colon tissue; usually due to irreversible damage
increased midbrain size greater than average size of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes
abnormal maternal behavior any response from the mother or attending female related to the ability of young to thrive
decreased susceptibility to kidney reperfusion injury a diminished likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia
keratoconjunctivitis
increased pulmonary respiratory rate greater than the normal number of breaths per minute
abnormal epidermis stratum spinosum morphology any structural anomaly of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance
abnormal thoracic aorta morphology any structural anomaly of the part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest
anasarca An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.
pancreas fibrosis
abnormal circulating complement protein level deviation from the normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
abnormal head size anomaly in the average size of the portion of the body containing the brain and organs of sight, hearing, taste, and smell
vertebral transformation homeotic transformation of a specific vertebrae to adopt the fate of another
increased t-helper 2 cell number greater number of the subset of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy
abnormal response to exercise any anomaly in the physiological changes induced by controlled exercise
increased adrenal gland tumor incidence greater than the expected number of neoplams in the adrenal gland occurring in a specific population in a given time period
abnormal circulating hormone level any anomaly in the blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs; originally applied to substances secreted by various endocrine glands and transported in the bloodstream to the target organs, it is sometimes extended to include substances that are not produced by the endocrine glands but that have similar effects
abnormal pineal gland melatonin secretion anomaly in the production and/or release of a catecholamine hormone by the pineal body that controls behavior influenced by seasonal changes
abnormal retinal outer nuclear layer morphology any structural anomaly of the retinal layer that contains the nuclei and cell bodies of rods and cones
squamous metaplasia of prostate gland a benign non-cancerous transformation of the prostatic glandular epithelium into stratified squamous epithelium
increased susceptibility to induced choroid neovascularization increased rate or amount of new growth of new, abnormal blood vessels that originate in the choroid through a break in the Bruch membrane into the sub-retinal pigment epithelium or subretinal space and may result in visual loss as a result of chemical or mechanical manipulation (e.g. laser-induced trauma)
abnormal chromosome morphology any structural anomaly of the compact, intertwined molecules of DNA found in the nucleus which carry genetic information
absent proximal rib missing part of rib structures near the spine, ribs do not contact vertebrae
abnormal female reproductive system physiology
disorganized retinal outer nuclear layer derangement of the normal pattern of the retinal layer that contains the nuclei and cell bodies of rods and cones
absent hard palate absence of the anterior part of the palate that is supported by and includes the palatal extensions of the maxillary and palatine bones in the adult
fusion of vertebral arches improper union of the dorsal part of adjacent vertebra
absent diencephalon absence or loss of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex
increased energy expenditure increase in the number of calories used per unit time or decrease in weight gain for a given amount of food eaten
increased rectum adenocarcinoma incidence
abnormal peyer's patch germinal center morphology any structural anomaly of the area of the Peyer's patch where B cells proliferate and differentiate into plasma cells
abnormal maxilla morphology any structural anomaly of the upper bony framework of the mouth where the superior teeth are held
abnormal hypothalamus morphology Any structural anomaly of the hypothalamus.
abnormal galactose homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of galactose in the fluids and tissues
abnormal lacrimal gland physiology any functional anomaly of the glands that secrete tears
abnormal kidney outer medulla outer stripe morphology any structural anomaly of the region of the kidney outer medulla that lies just below the cortex; the proximal straight tubules are present in this region
abnormal blastocyst hatching any anomaly of the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation
increased pituitary adenohypophysis tumor incidence greater than the expected number of neoplasms in the anterior part of the pituitary that secretes a variety of hormones, occurring in a specific population in a given time period
increased intestine copper level a greater accumulation of copper in intestinal tissue compared with controls
small ischium reduced size of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis
small molars reduced size of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface
absent retinal rod cells absence of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane
abnormal limb paddle morphology any structural anomaly of the transient developing limb structure that develops from the limb bud; it is a dorsoventral flattening of the limb bud structure and develops into the foot plate
abnormal aorta endothelium morphology any structural anomaly of the thin layer of flat cells that line the aorta and form a barrier between circulating blood in the lumen and the rest of the vessel wall
abnormal t-helper 1 physiology abnormal function of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity
abnormal pituitary intermediate lobe morphology any structural anomaly of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults
abnormal vitamin b12 level any anomaly in the concentration of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom
abnormal heart left atrium morphology any structural anomaly of the left upper chamber of the heart
delayed gastrulation late onset of the development and invagination of the embryonic germ layers
binucleate two nuclei present per cell body when one is expected; often due to failed cytokinesis
increased rhombomere 4 size increased size of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order
abnormal sperm axoneme morphology any structural anomaly of the central core of the sperm flagellum, composed of a ring of 9 outer microtubule doublets surrounding a central pair; inner and outer dynein arms project from each of the outer 9 doublets, and these arms are responsible for generating the motive force of the flagellum; in addition, 9 radial spokes, each of which originates from 1 of the 9 outer microtubular doublet pairs, project inward toward the central pair in a helical fashion
cornea ulcer
abnormal temporomandibular joint morphology any structural anomaly of the synovial articulation between the head of the mandibular condoyloid process and the mandibular fossa and articular tubercle of the temporal bones
abnormal sertoli cell phagocytosis altered ability of the Sertoli cells to endocytose and degrade the apoptotic spermatogenic cells and residual bodies (shed cytoplasts) during the maturation phase of spermiogenesis; normally, greater than 50 per cent of differentiating spermatogenic cells undergo apoptosis before maturing into spermatozoa, and these cells are selectively and rapidly eliminated through phagocytosis by Sertoli cells
impaired mammary gland growth during pregnancy defect in the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation in preparation for lactation
absent intervertebral disk absence of the cartilaginous and gelatinous structure found between vertebrae
atrial situs inversus Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.
abnormal grooming behavior defects in the standard of behavior of cleaning and/or keeping outward appearance tidy (self, mate or offspring)
abnormal placenta hemotrichorial membrane morphology any structural anomaly of the three trophoblast cell layers found in rodent placentas between fetal blood vessels and maternal blood sinuses
enlarged pericardium extended fibroserous membrane covering the heart and beginning of the great vessels
abnormal palatine bone morphology any structural anomaly of either of two irregularly L-shaped bones located posterior to the maxilla that in part forms the back of the hard palate, part of the nasal cavity and part of the floor of the orbits
abnormal memory b cell differentiation atypical production of or inability to produce distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin
abnormal bile salt homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats
abnormal optic tract morphology any structural anomaly of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region
decreased tumor latency earlier onset of tumor occurrence than expected
abnormal conditioned place preference behavior anomaly in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment
abnormal osteoblast morphology any structural anomaly of a skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell
increased circulating bicarbonate level elevated concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood
abnormal orientation of inner hair cell stereociliary bundles misorientation or rotation of inner hair cell (IHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium
spleen hypoplasia
decreased epididymis weight reduction in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens
abnormal sciatic nerve morphology any structural anomaly of the nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity
abnormal igd level deviation from the normal levels of immunoglobulin class D level
absent midgut absence of the portion of the embryonic gut between the foregut and the hindgut
cervical vertebral transformation homeotic transformation of any cervical vertebrae to adopt the fate of another vertebrae
absent thyroid follicular cells absence of the thyroxine-producing follicular cells derived from the thyroid diverticulum which evaginates from the endodermal epithelium of the embryonic pharyngeal floor
abnormal pancreatic alpha cell morphology any structural anomaly of the cells of the pancreas that secrete glucagon
absent uterus Aplasia of the uterus.
increased susceptibility to autoimmune disorder greater likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides
abnormal axial skeleton morphology An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.
abnormal fat pad morphology any structural anomaly of the encapsulated adipose tissue
absent vagal neural crest cells absence of the neural crest cells (NCCs) that arise from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7
abnormal circulating triiodothyronine level anomaly in the amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland
enlarged adenohypophysis increased size of the anterior part of the pituitary that secretes a variety of hormones
decreased interleukin-5 secretion reduction in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells
abnormal humoral immune response any functional anomaly of the aspect of immunity that is mediated by secreted antibodies produced in the cells of the B lymphocyte lineage (B cell) and the accessory processes that accompany it, including Th2 activation and cytokine production, germinal center formation and isotype switching, affinity maturation and memory cell generation; it also refers to the effector functions of antibody, which include pathogen and toxin neutralization, classical complement activation, and opsonin promotion of phagocytosis and pathogen elimination
absent platelets lack of non-nucleated cells found in the blood and involved in blood coagulation
enlarged cranium increased size of the cranium
pituitary gland peliosis presence of cyst-like blood-filled lakes or cavities (extravasated erythrocytes not contained in capillaries) within the pituitary gland; commonly found in hyperplastic and adenomatous pituitary glands
abnormal macrophage differentiation atypical production of or inability to produce the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells
abnormal exercise endurance improved or impaired performance during controlled physical activity
abnormal embryonic epiblast morphology any structural anomaly of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion
abnormal mast cell degranulation abnormalities in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell
increased anterior commissure size enlarged round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle
abnormal perivascular macrophage morphology any structural anomaly of macrophages that line the small blood vessels
abnormal abducens nerve morphology any structural anomaly of the sixth cranial nerve, which originates in the abducens nucleus of the pons and sends motor fibers to the lateral rectus muscles of the eye
decreased activation-induced b cell apoptosis decreased frequency of B cell apoptosis that occurs upon engagement of either the B cell receptor or CD40, but not both; the engagement leads to expression of fas or related receptors that make the B cell susceptible to fas-ligand mediated death
pyelonephritis
complete embryonic lethality death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)
abnormal sympathetic postganglionic fiber morphology any structural anomaly of any or all of the noradrenergic and some adrenergic axonal fibers projecting from a sympathetic ganglion to an effector organ
decreased cranium width having a decreased side-to-side, or lateral distance of the cranium
abnormal excitatory postsynaptic potential defect in the potential detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization
failure of adrenal epinephrine secretion inability of adrenal gland to deliver epinephrine into the blood stream
increased alimentary system tumor incidence greater than the expected number of tumors originating in the alimentary system in a given population in a given time period
cardiac muscle necrosis morphological changes resulting from pathological death of cardiomyocytes or a portion of the cardiac muscle tissue; usually due to irreversible damage
increased urine flow rate increased volume of urine produced in a specified period of time
gastric ulcer A peptic ulcer of the gastric mucosa.
abnormal erythropoiesis atypical process of the formation of enucleated fetal and adult erythrocytes
thick retinal ganglion layer increased thickness of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain
increased trabecular bone mass greater total amount of trabecular bone tissue contained in the skeleton
abnormal intestinal transit time increase or decrease in the time it takes for a bolus of material to pass through the intestine
abnormal immune system physiology deviation from the normal function of the immune system
increased igd level greater than normal immunoglobulin class D level
absent metoptic pilar absence of the posterior border of the optic nerve foramen
decreased prostate gland duct number fewer than normal minute canals that pass the prostatic secretions to the urethra
abnormal sublingual duct morphology any structural anomaly of the canals that drain the sublingual gland
increased embryonic neuroepithelium thickness increased width of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells
abnormal hippocampus stratum radiatum morphology
abnormal rectum morphology any structural anomaly of the terminal portion of the intestinal tube adjacent to the anus
abnormal hair-down neuron morphology anomaly of the subcutaneous mechanosensitive D-hair (down-hair) neurons, which innervate hair follicles, and are characterized by a large-amplitude Cav3.2 T-current involved in the amplification of slow-moving and/or light touch stimuli
decreased ovulation rate reduction in the frequency in which an ovum (or ova) is/are released from a rupturing ovarian follicle(s)
impaired luteinization atypical transformation of the mature ovarian follicle and its theca interna into a corpus luteum after ovulation
delayed dark adaptation increase in time required for the eye to recover its sensitivity in the dark following exposure to bright lights
abnormal renal calcium reabsorbtion any anomaly in the process by which calcium ions are transported out of the renal tubules back into the bloodstream
increased hemangioma incidence greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells, occurring in a specific population in a given time period; a cavernous hemangioma is characterized by large endothelial spaces (caverns), and a capillary hemangioma is characterized by small endothelial spaces
hyperlipidemia Abnormally high level of lipids in blood.|Conditions with excess LIPIDS in the blood.
decreased bleeding time less than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function
absent schwann cell precursors missing progenitors of cells that sheath the axons of the peripheral nervous system
abnormal hair cuticle anomalies in the thin, smooth and glossy outer protective cell layer of hair shaft
abnormal pulse pressure anomaly in the difference between systolic and diastolic blood pressure
absent hindlimb buds absence or loss of the limb bud that normally develops into a hindlimb (usually the leg or back limb in mammalian species)
increased intestinal cholesterol absorption augmented ability of the body to take up cholesterol into the blood by absorption from the small intestine
abnormal bronchoconstrictive response anomaly in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography
abnormal dendritic cell morphology any structural anomaly of a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation
hyperchromasia increased capacity of a cell to stain with dye; usually refers to staining of cell nuclei with hematoxylin
increased circulating noradrenaline level greater than the normal blood amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine
coronary-cameral fistula an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering a chamber of the heart (coronary-cameral fistula)
abnormal kidney collecting duct principal cell morphology any structural abnormality of the cuboidal epithelial cells found in the collecting ducts of the kidney which regulate sodium and potassium balance via channels located on the cells apical membrane. Aldosterone increases the number of Na+/K+-ATPase pumps that allow increased sodium reabsorption and potassium secretion whereas antidiuretic hormone (vasopressin) determines the expression of aquaporin channels on the cell surface; together, aldosterone and vasopressin let the principal cell control the quantity of water that is reabsorbed
abnormal large intestine morphology any structural anomaly of the portion of the digestive tube extending from the ileocecal valve to the anus, consisting of the cecum, colon, rectum and anal canal
absent interventricular septum membranous part absence of the membranous portion of the wall between the two lower chambers of the heart
increased compensatory renal growth increased additional growth of a kidney upon removal of the other kidney through surgery or disease
small cecum reduced size of the large sac at the ileum and large intestine junction
abnormal testosterone level An anomalous concentration of testosterone in the blood.
ovary inflammation
abnormal liver weight anomaly in the average weight of the bile-secreting exocrine gland
absent sperm mitochondrial sheath absence of the tightly packed helical sheath of ATP-producing mitochondria, normally found in the midpiece of the sperm flagellum
decreased lymphoma incidence less than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period
absent incisors
hemorrhagic ascites the presence of bloody or blood-stained serous fluid, frequently resulting from metastatic carcinoma, in the peritoneal cavity
abnormal response to novel odor altered behavioral reaction associated with exposing an animal to a novel odor
absent visceral endoderm absence of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut
decreased sensitivity to induced cell death increase in the exposure level to an agent that is required to induce cessation of function at the cellular level
abnormal platelet volume Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.
enlarged heart
abnormal heart atrium auricular region morphology any structural anomaly of the small conical pouch projections located on the upper anterior portion of each atrium of the heart
abnormal skeletal muscle weight any anomaly in the average skeletal muscle weight
superior-inferior ventricles an abnormality in which the heart ventricles are in a superior-inferior relationship due to abnormal displacement of the ventricular mass along the horizontal plane of its long axis; this frequently occurs together with criss-cross atrio-ventricular relationships
hypermyelination increased myelin formation in a myelin sheath over all or part of an axon or fiber tract, usually resulting in a thicker myelin sheath
abnormal hippocampus ca2 region morphology any structural anomaly of the smallest cytoarchitectural subregion of the Ammon's horn region of the hippocampal formation, located between CA3 and CA1, comprised of pyramidal neurons receiving both Schaffer collateral and mossy fiber input
increased susceptibility to ototoxicity-induced hearing loss greater than normal reduction in hearing sensitivity following exposure to an ototoxic compound, such as aminoglycoside-induced hearing loss mediated via a glutamate excitotoxic process
abnormal merkel's receptor morphology any structural anomaly of the modified epidermal cells located in the stratum basale and found mostly in areas where sensory perception is acute
abnormal fibrocartilage morphology any structural anomaly of the nonvascular, resilient, flexible connective tissue containing thick bundles of collagenous fibers; found primarily in intervertebral disks
decreased subcutaneous adipose tissue amount reduction in amount of adipose tissue beneath the skin
abnormal maternal decidual layer morphology any structural anomaly of the maternal uterine-derived portion of the placenta
abnormal lateral ganglionic eminence morphology any structural anomaly of a distinct elevation of a transient proliferating cell mass of the fetal subventricular zone; this mass contributes most of its cells to the striatum; however, neocortex, thalamus, septum and olfactory bulb neurons are also partly derived from the LGE
muscle degeneration pathological deterioration of muscle tissue, often accompanied by loss of function
abnormal meninges morphology any structural anomaly in any of the membranes covering the spinal cord and brain, including the dura mater (external), arachnoid (middle), and pia mater (internal)
abnormal intercalated disc morphology any structural anomaly in the electron dense junctional complex, at the end to end contacts of cardiac muscle cells, that contains two types of membrane junctions i.e. gap junctions and desmosomes; the intercalated discs permit communication between the cells such that there is a sequential contraction of the cells from the bottom of the ventricle to the top, facilitating maximal ejection of blood from the ventricle during contraction
abnormal ear pigmentation anomaly in the coloration of the skin of the outer ear due to changes in the amount, shape, or distribution of cells producing pigment
reduced enamel thickness thin hard coating of the exposed portion of the tooth
abnormal enamel organ morphology any structural anomaly of the circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth
tricuspid valve regurgitation
abnormal adrenal gland physiology any functional anomaly of the surparenal gland, including the ability to produce and secrete hormones
abnormal mammary gland growth during lactation anomaly in the final stage of mammary growth that occurs during the start of lactation
pulmonary artery stenosis An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
abnormal redox activity defect in the processes that maintain the redox environment of a cell or compartment within a cell
decreased incidence of tumors by chemical induction lower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens
thin interventricular septum decreased thickness of the wall between the two lower chambers of the heart
increased lung adenocarcinoma incidence
abnormal hair follicle dermal papilla morphology any structural anomaly of the mesodermal signaling center of the hair follicle consisting of closely packed specialized mesenchymal fibroblasts
chronic joint inflammation persistent inflammatory response in the joints, often caused by persistent infection or during an autoimmune response
decreased cell mass reduction in the total physical bulk or volume of a cell compared to the normal state
abnormal soleus weight anomaly in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot
rectovaginal fistula The presence of a fistula between the vagina and the rectum.
abnormal macrophage chemotaxis anomaly in the accumulation of macrophages in a specific location in response to a wide variety of substances released at the sites of inflammatory reactions
absent hair follicle dermal papilla absence of the mesodermal signaling center of the hair follicle consisting of closely packed specialized mesenchymal fibroblasts
abnormal ion homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of charged molecules in the fluids and tissues
abnormal sex gland physiology any functional anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction
abnormal cardiac jelly morphology any structural anomaly of the gelatinous noncellular material between the endothelial lining and the myocardial layer of the developing heart
dissociated hepatocytes disorganization of cohesive hepatocyte structure
decreased cns synapse formation a reduction in the frequency of the process of generating the initial connections between an axon and effector tissue or neuron
telangiectases vascular lesion formed by dilation of a group of small blood vessels
abnormal sperm mitochondrial sheath morphology any structural anomaly or impairment of the tightly packed helical sheath of ATP-producing mitochondria restricted to the midpiece of the sperm flagellum
abnormal posterior stroma morphology any structural anomaly of the posterior segment of the lamellated connective tissue layer of the cornea
increased blinking frequency greater number of occurrences of the normal reflex of closing the eyes frequently and rapidly
uveitis
increased anal adenocarcinoma incidence
abdominal situs ambiguus an abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements
abnormal hv interval any anomaly in the time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity
decreased fluid intake reduction in the total amount of fluid taken in over time when compared to the normal state
abnormal sternebra morphology any structural anomaly of one segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum
abnormal olfactory -discrimination memory anomaly in the ability to exhibit a differential response to olfactory stimuli that is achieved by the reinforcement of the desired response for each particular olfactory stimulus
absent ectoplacental cone missing the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta
decreased purine-nucleoside phosphorylase activity reduced ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate
abnormal prevertebral ganglion morphology any structural anomaly of the sympathetic ganglia located in front of the vertebral column and are associated with the major branches of the abdominal aorta; these include the celiac, aorticorenal, superior and inferior mesenteric ganglia
wavy vibrissae undulations or a sinusoidal shape of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors
abnormal lactotroph morphology any structural anomaly of an acidophilic cell of the anterior pituitary that produces prolactin
increased sensitivity to xenobiotic induced morbidity/mortality decrease in the amount of a foreign compound required to cause death or diseased state
abnormal incisor color anomaly in the color and shading of the incisor, which normally presents in shades of white
sensorineural hearing loss OMIM mapping confirmed by DO. [LS].
abnormal professional antigen presenting cell physiology any functional anomaly of a cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response
susceptible to malignant hyperthermia increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
enlarged heart atrium increased size of one or both of the two upper chambers of the heart, to which the blood returns from the circulation
tricuspid valve stenosis A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve.
abnormal forelimb zeugopod morphology any structural anomaly of the distal elements of the forelimb including the radius and ulna
insulitis a histological change in the islets of Langerhans characterized by edema and the infiltration of small numbers of white blood cells
abnormal immune tolerance anomaly in the process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it
abnormal visual pursuit An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.
adrenal gland cyst presence of fluid-filled usually benign growths in the adrenal gland
increased circulating glycerol level elevated blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source
absent alisphenoid bone absence of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young
increased salivary gland mucosal cell number greater than normal number of cells that form mucus in the salivary glands
dermal hyperplasia overdevelopment or increased size, usually due an increased number of cells in the dermal layer of the skin
abnormal trabecular bone morphology Abnormal structure or form of trabecular bone.
increased granulosa cell tumor incidence greater than the expected number of neoplasms derived from somatic cells of the sex cord in the ovary a given population in a given time period
increased urine beta2-microglobulin level greater than the normal amount of beta2-microglobulin in the urine; may indicate renal tubule disease, drug-induced renal toxicity, heavy metal-induced renal disease, lymphomas, leukemia, or myeloma
abnormal circadian regulation of heart rate anomaly in the process in which an organism modulates its heart rate at different values with a regularity of approximately 24 hours
vaginal inflammation
absence of ampa-mediated synaptic currents absence of a measured amplitude, current density or response to stimulation of NMDA receptors
kidney collecting duct atrophy acquired diminution of the size of the kidney collecting ducts associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
abnormal smooth muscle morphology any structural anomaly of any of the unstriated muscle fibers of the internal organs, blood vessels, hair follicles, etc.
increased circulating interleukin-13 level increase in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses
abnormal motor coordination/ balance
renal glomerular synechia presence of adhesions (synechiae) between the Bowman's capsule and the glomerular tuft; may develop when areas of glomerular capillary basement membrane denuded of visceral epithelial cells come in contact with the parietal epithelium of Bowman's capsule
acoria absence of the pupil of the eye
increased thymocyte number greater than expected number of immature T cells located in the thymus
abnormal lean body mass anomaly in the amount of the fat-free physical bulk or volume of the body including all its components except adipose tissue
abnormal lens epithelium apoptosis anomaly in the number of lens epithelial cells undergoing programmed cell death
mammalian phenotype the observable morphological, physiological, behavioral and other characteristics of mammalian organisms that are manifested through development and lifespan
abnormal synchondrosis anomalous or persistent cartilaginous fusion of two bones
enlarged adrenocortical cells larger size of cells of the steroid hormone-producing cells of the cortex of the adrenal gland
abnormal ureteric bud morphology any structural anomaly of the epithelial swelling on the metanephric duct that elongates to invade the adjacent metanephric mesenchyme; interactions between the ureteric bud and the metanephric mesenchyme leads to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue
abnormal seminal vesicle size anomaly in the size of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens
abnormal otic pigmentation any anomaly in the pigment or pigment-producing cells of the inner ear resulting in abnormal melanoblast numbers, distribution, or pigment during development
abnormal filiform papillae morphology any structural anomaly of the keratinized projections on the dorsal surface of the tongue
abnormal tail development anomaly in the formation of the tail
abnormal intermediate mesoderm any anomaly of the band of mesoderm located between the segmented paraxial mesoderm and the lateral plate mesoderm, that develops into the nephrogenic cord
abnormal neurotransmitter secretion anomaly in the production or release of endogenous signaling molecules into a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell
abnormal hematopoietic system physiology any functional anomaly of the fluid and/or its suspended elements that circulate(s) through the heart, arteries, capillaries, and veins
delayed somite formation late onset of the induction and/or differentiation of the somites
abnormal chondrocyte morphology any structural anomaly of a polymorphic cell that forms cartilage
abnormal tectorial membrane morphology any structural anomaly of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells; sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair cell membrane potential, transducing sound into electrical signals
stomatocytosis The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.
increased pancreas adenoma incidence
abnormal kidney pyramid morphology any structural anomaly of the conical mass of tissue, containing part of the secreting and collecting tubules, whose base faces the renal cortex
abnormal rhombomere morphology any structural anomaly of any of the transiently divided segments of the developing neural tube of vertebrate embryos found within the hindbrain region in the area that will eventually become the rhombencephalon; the rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure
abnormal autopod morphology any structural anomaly of the distal elements of the limb of vertebrates including the pedal or prehensile appendages (e.g. hand, foot, paw, phalanges and/or digits)
decreased circulating adrenaline level less than the normal concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels
absent guard hair absence of the long, straight truncal hairs that contain two air cells in the medulla
hyperactivity
abnormal neural crest cell delamination any anomaly in the process by which a neural crest cell (NCC) physically dissociates from the neuroepithelium in the dorsal aspect of the neural tube; premigratory NCCs exist within a fully polarized epithelial layer, adjoined by adherens junctions and tight junctions; NCC delamination involves an epithelial-mesenchymal transition (EMT) during which epithelial cells are converted into migratory mesenchymal cells; EMT requires loss of apical-basal cell polarity and dissolution of tight junctions and is accompanied by changes in cytoskeletal organization and a switch in adhesive properties so that cells can separate from the neuroepithelium and emigrate
abnormal primordial germ cell apoptosis change in the timing or the number of primordial germ cells undergoing programmed cell death
abnormal bone mineral content any anomaly in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area
increased activated t cell number greater than normal numbers of effector T cells
decreased nerve conduction velocity A reduction in the speed at which electrical signals propagate along the axon of a neuron.
abnormal inner hair cell kinocilium morphology any structural anomaly of the nonmotile primary cilium that is found at the apical surface of inner hair cells
bifid tongue Tongue with a median apical indentation or fork.
parakeratosis Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
fragile skeleton
absent muscle spindles absence of the sensory organs in muscle that are involved in the stretch reflex
liver fibrosis
abnormal clara cell morphology any structural anomaly of the rounded, club-shaped, nonciliated cell protruding between ciliated cells in bronchiolar epithelium, believed to be secretory in function
abnormal liver cholesterol level aberrant amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues
abnormal peripheral b cell anergy any anomaly of the processes of B cell anergy that occur outside the bone marrow
abnormal crista ampullaris morphology any structural anomaly in the elevation found on the inner surface of the ampullae of each semicircular duct; filaments of the vestibular nerve pass through the crista to reach hair cells on its surface; the hair cells are capped by the cupula, a gelatinous protein-polysaccharide mass
dilated glomerular capillary stretched or widened aperture of the luminal space of the small branching blood vessel in the kidney glomerulus that receives blood from the kidney afferent arteriole
degranulated pancreatic beta cells insulin-secreting cells of the pancreas do not contain vesicles containing insulin
deformed nails atypical shape or size of the nails
decreased tongue size
failure of mullerian duct regression failure of the transient embryonic paramesonephric ducts, which normally develop into the oviduct, uterus, cervix and upper vagina in the female, to regress in the male; persistence of Mullerian ducts is typically consistent with a loss of anti-Mullerian hormone signaling and may allow development of the female reproductive tract in males
abnormal atrioventricular node conduction anomaly in the generation or transfer of cardiac electrical impulses from the atrioventricular node to the atrioventricular bundle
absent vertebral spinous process missing the dorsal projection of the vertebral arch that projects backward and downward from the junction of the laminae, and serves for the attachment of muscles and ligaments
decreased ige level less than normal immunoglobulin class E level
abnormal medium spiny neuron morphology any structural anomaly of the inhibitory projection neurons located in the striatum that integrate glutamatergic signals arising from the cerebral cortex and thalamus
abnormal secondary palate development any anomaly in the formation of the part of the palate that is formed during embryonic development when palatal projections from the inner part of the maxillary processes emerge, extend and elevate into a horizontal position above the tongue
impaired muscle contractility inability or reduced ability of a muscle to shorten or to develop increased tension
abnormal myelin sheath morphology any structural anomaly of the insulating envelope that surrounds nerve fibers or axons
absent ribs A developmental anomaly with absence of one or more ribs.
abnormal podocyte morphology any structural anomaly of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane
infertility Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility.
abnormal vas deferens morphology A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.
increased skeletal muscle fiber number increased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles
abnormal parietal bone morphology any structural anomaly of the curved bone forming part of the vault of the cranium
delayed eyelid opening late average time for the first postnatal eye opening
wolffian duct degeneration a retrogressive impairment of function or destruction of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male
short vertebral body reduced length of the main cylindrical portion of the vertebra ventral to the vertebral canal
abnormal circulating copper level any anomaly in the blood concentration of copper
pale kidney kidney lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition
thick lung-associated mesenchyme increased thickness of the mesenchymal cell layer due to delay or failure of the mesenchymal compartment to thin down during the late stages of embryonic lung development
arteritis Arterial inflammation.
enhanced fertility increased ability to produce live offspring
abnormal subplate morphology any structural anomaly of the transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate
partial postnatal lethality the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)
delayed brain development the delay or slower progress of the growth and differentiation of the brain
abnormal prenatal growth/weight/body size limited or accelerated growth or development apparent before birth
decreased susceptibility to bone fracture reduced probability that injury or disease will result in damaged or broken bones
decreased serotonin level reduction in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity
decreased urine osmolality reduction in the amount of ions in the urine compared to the normal state
decreased otolith number reduced average number of the crystalline calciferous particles adhering to the otolithic membrane
absent ovary capsule missing the tough, fibrous capsule surrounding each ovary
increased vestibular hair cell number increased number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear which are normally in synaptic contact with the vestibular nerve
absent patella Absence of the patella.
abnormal urine nucleotide level any change in the urinary level of glycosamines consisting of a nucleobase, a five-carbon sugar moiety (ribose or deoxyribose), and may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates)
increased diameter of humerus increased width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge
abnormal response to injury anomaly in the body's reaction to trauma, especially that by physical means
abnormal activated sperm motility any anomaly in the type of sperm mobility that is observed in freshly ejaculated sperm and is thought to help propel the sperm through the female reproductive tract to the oviduct; normally, the flagellum of an activated sperm generates a symmetrical, lower amplitude waveform that drives the sperm in a relatively straight line
abnormal melanocyte morphology any structural anomaly of the cells that produce pigment
epidermis stratum spinosum hyperplasia overdevelopment or increased size, usually due an increased number of cells, of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance
small seminal vesicle reduced size of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens
increased skeletal muscle weight greater than average skeletal muscle weight
abnormal mammary gland alveolus morphology any structural anomaly of the sac-like structure of the mammary gland that secretes milk after pregnancy
increased creatine level increase in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized
absent ulna Missing ulna bone associated with congenital failure of development.
complete embryonic lethality between implantation and placentation death of all organisms of a given genotype in a population between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9)
liver degeneration deterioration of the liver due to injury or disease, often accompanied by loss of function
abnormal ovary morphology any structural anomaly of the female reproductive gland containing the germ cells
eye hemorrhage bleeding into the eye
increased interleukin-10 secretion increase in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation
abnormal vascular smooth muscle development anomaly in the process of forming the nonstriated, involuntary muscle tissue of the blood vessels
increased renal vascular resistance greater than the normal force opposing blood flow in the kidney blood vessels
abnormal ascending aorta morphology any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise
small sacral vertebrae reduced size of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae
hepatic necrosis The presence of necrosis affecting the liver.
mixed cellular infiltration to dermis gradual accumulation of mixed cell types in the dermis that are not normally found there
decreased lipoprotein lipase activity reduced ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate
abnormal palatal shelf elevation any anomaly in the process in which the palatal shelves move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue
elongated neck increased length of the neck
decreased embryo size smaller proportions of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis)
abnormal chest morphology any structural anomaly of the part of the body between the neck and the abdomen
absent neural folds absence of the elevated margins of the neural groove
decreased organ/body region tumor incidence less than the expected number of tumors originating in a specific body region or organ in a given population in a given time period
increased myoepithelioma incidence greater than the expected occurrence of a benign tumor of myoepithelial cells, occurring in a specific population in a given time period
absent gametes absence of mature reproductive cells, ovum or spermatozoon, capable of fusing with a cell of similar origin, but opposite sex to give a zygote
decreased nk t cell number reduced number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments
disorganized testis cords derangement of the pattern of the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence
abnormal mullerian duct morphology any structural anomaly of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina
abnormal adiponectin level abnormal level of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue
abnormal systemic artery morphology any structural anomaly of the arteries that carry oxygenated blood away from the heart to the body, as opposed to the pulmonary arteries, which carry deoxygenated blood to the lungs
abnormal somatic nervous system physiology any functional anomaly of the part of the peripheral nervous system that is responsible for conveying voluntary motor and external sensory information, including all nerves controlling the skeletal muscular system and external sensory receptors (including balance, smell, sight, taste, touch and hearing sensory inputs)
abnormal morula morphology any structural anomaly of the globular solid mass of blastomeres formed by cleavage of a zygote that typically precedes the blastula, typically after the zygote has divided into 32 cells
lethality throughout fetal growth and development death anytime between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)
increased cholesterol level greater than normal amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues
abnormal intestinal mineral absorption any anomaly in the ability of the body to take up inorganic substances that have importance in body functions into the blood by absorption from the small intestine
abnormal interferon-alpha secretion anomaly in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells
decreased ductal branching in the coagulating gland fewer branches and distal tips of the vesicles of the coagulating gland
abnormal gubernaculum morphology any structural anomaly of the genitoinguinal ligaments that, in the male, connect the fetal testis to the developing scrotum, and, in the female, connect the ovaries to the uterus
abnormal auditory tube anomaly in the tube connecting the tympanic cavity and the nasopharynx that allows equalization of pressure between the tympanic cavity and the environment
bifurcated tail the appearance of an abnormal division in the flexible elongated appendage located at the caudal end of the torso in many species
thick epidermis stratum spinosum increased thickness of the stratum spinosum; the polyhedral cell layer
decreased urine flow rate reduced volume of urine produced in a specified period of time
abnormal oviduct transport increased or decreased rate of passage of embryos or oocytes from the ovary to the uterus
abnormal rostral neuropore morphology any structural anomaly of the temporary opening at the extreme rostral (cephalic) end of the early embryonic prosencephalon (forebrain); the anterior neuropore appears before the process of neural tube closure is complete
abnormal skeleton morphology any structural anomaly of the bony framework of the body in vertebrates
ectropion
homeostasis/metabolism phenotype
abnormal kidney apoptosis change in the timing or the number of kidney cells undergoing programmed cell death
abnormal brain wave pattern any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG); the pattern is often measured to diagnose neurological conditions such as seizure disorders (epilepsy)
short zygomatic bone reduced length of the bone that forms the prominence of the cheek
radius hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in the short bone of the lateral forearm
abnormal aqueous humor anomaly in the clear, watery fluid that fills the anterior and posterior chambers of the eye
decreased double-negative t cell number reduced numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8
absent fourth pharyngeal arch absence of the structure of the fourth arch which contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus
abnormal round window morphology any structural anomaly of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; serves to regulate fluid pressure in the inner ear
abnormal vagus ganglion morphology any structural anomaly of the group of sensory neuron cell bodies associated with the vagus nerve
increased triglyceride level greater concentration of naturally occurring esters of three fatty acids and glycerol; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver
abnormal neural tube morphology/development any structural anomaly of or development of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord)
decreased mast cell protease storage reduced amounts of proteolytic enzymes stored in mast cells
abnormal cerebellum vermis lobule iii morphology The central lobule (lobules II/III) is a single structure in humans, but it is divided by the posterior superior fissure in rodents.
renal cast any of the various casts formed from gelled protein precipitated in the distal convoluted tubules and collecting ducts of nephrons and molded to the tubular or duct lumen which dislodge and pass into the urine; types named for their constituent material include acellular casts (e.g. granular, hyaline, waxy, or fatty casts) and cellular casts (e.g. red or white blood cell casts)
enlarged pancreas increase of the size of the pancreas compared to controls
hypochromic microcytic anemia A microcytic anemia characterized by paler than normal blood cells.
abnormal lymph node morphology any structural anomaly of the oval or bean shaped bodies located along the lymphatic system that consist of densely packed lymphocytes, lymph fluid and connective tissue, and is the site where acquired immune responses are launched
abnormal sexual maturation a delay or a block in the development of the sexual organs at a given age
abnormal nk cell degranulation anomaly in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells
abnormal circulating apolipoprotein e level anomaly in the amount in the blood of a protein that is frequently a component of a VLDL, HDL, and chylomicron complexes, and functions in cholesterol transport
decreased primordial ovarian follicle number fewer than normal numbers of the ovarian follicle in which the primary oocyte is surrounded by a single layer of flattened follicular cells; primordial follicles are indiscernible to the naked eye and develop to primary, secondary, and finally mature vesicular follicles
decreased common myeloid progenitor cell number reduced number of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages
abnormal vomeronasal organ morphology any structural anomaly of the tubular, crescent-sensory organ with a luminal epithelium that contains chemosensitive receptor cells with microvilli that are thought to detect pheromones and transmit signals to the remainder of the accessory olfactory system; the organ lies at the base the nasal cavity and is split into two, separated by the nasal septum
increased lung endothelial cell proliferation greater ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division
abnormal geniculate ganglion morphology any structural anomaly of the group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve)
decreased embryonic cilium length reduced length of the cilia of the mouse embryo found on the cells of the embryonic node
abnormal hemangioblast number deviation from the normal numbers of pluripotent precursor cells in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands
absent subplate absence of the transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate
absent podocytes absence of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane
decreased retinal cone cell number reduced number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment
pituitary intermediate lobe hyperplasia overdevelopment or increased size, usually due to increased cell number, of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults
decreased cardiomyocyte apoptosis decrease in the number of cardiac muscle cells undergoing programmed cell death
abnormal fetal growth/weight/body size limited or accelerated growth or development apparent during the fetal period (sensu Mus: from E14 through birth)
abnormal fetal atrioventricular canal septation anomaly in the process by which the dorsal and ventral endocardial cushions develop in the walls of the common atrioventricular canal, grow toward each other and fuse, dividing the common atrioventricular canal into right and left atrioventricular canals and the atrioventricular septum
abnormal sperm nucleus morphology any structural anomaly of the sperm head nucleus, including an abnormal nuclear shape or defects in the compaction of nuclear chromatin
abnormal placenta labyrinth size anomaly in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood
impaired branching involved in terminal bronchiole morphogenesis partial or complete failure of the process in which the branched structure of the terminal bronchioles are generated and organized
buphthalmos OMIM mapping confirmed by DO. [LS].
increased corpora lutea number greater than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrous cycle
increased urine sodium level higher than normal amount of sodium in the urine
paravertebral ganglia hyperplasia overdevelopment or increased size, usually due to increased cell number, of the groups of postsynaptic neurons located at intervals along the sympathetic trunk, including the superior cervical, middle cervical and stellate (cervicothoracic) ganglia as well as the thoracic, lumbar and sacral ganglia
increased igg2a level greater than normal immunoglobulin class G2a level
fecal incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained.
adrenal medulla hyperplasia overdevelopment or increased size of the inner portion of the adrenal gland that consists mainly of chromaffin cells, usually due to an increase in the number of cells
increased mitochondria number greater than normal number of the cellular organelles responsible for energy production
absent mature b cells absence of the mature form of a B cell, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex
abnormal summary potential anomaly in the electrophysiological recording of the activity of several cells
absent pulmonary alveoli absence of the saclike terminal dilation of the respiratory bronchioles, alveolar ducts and alveolar sacs across which gas exchance occurs between alveolar air and the pulmonary capillaries
small penile bone size reduction or truncation of the unique bone of variable size and shape located in the glans penis of most mammals except humans
thrombosis formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements
cleft palate An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.
abnormal perineum morphology any structural anomaly of the area between the genital organs and the anus that lies beneath the pelvic diaphragm
enlarged ovary increased size of the female reproductive gland containing the germ cells
altered susceptibility to bacterial infection a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria
decreased urine glucose level a reduced amount of glucose in the urine compared to the normal state
increased activity of parathyroid
decreased interscapular fat pad weight less than average weight of the encapsulated adipose tissue located between the scapulae
absent vestibular hair cell stereocilia complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern
abnormal spermatogonia morphology any structural anomaly of the large unspecialized male germ cells that give rise to spermatocytes
ectopic cranial bone growth growth of extra bony structures in or near the cranium
intestinal ulcer lesions in the mucous lining of the intestine
increased interleukin-13 secretion increase in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses
defective assembly of class ii molecules impaired production of major histocompatibility complex class II molecules
absent zygomatic bone absence of the quadrilateral bone that forms the prominence of the cheek
skeletal muscle hyperplasia overdevelopment or increased size of the skeletal muscle, usually due an increased number of cells
increased horizontal stereotypic behavior increase in the frequency of repetitive rearings (greater than one per second)
abnormal angiotensin i-converting enzyme activity reduced activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin
anal atresia
absent marginal zone b cells absence of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL
absent malleus manubrium absence of the handle of the malleus
short fibula Underdevelopment of the fibula.
decreased pancreatic endocrine progenitor cell proliferation reduced ability of a pancreatic endocrine progenitor cell population to undergo expansion by cell division
otic vesicle hypoplasia underdevelopment of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear, usually due to a reduction in cell number
abnormal food intake any anomaly in the total number of calories/food amount taken in over time when compared to the normal state
abnormal interleukin-5 secretion anomaly in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells
abnormal vital capacity anomaly in the amount of air that is exhaled by a maximal expiration following a maximal inspiration
impaired cued conditioning behavior decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash)
absent retina absence of the nerve layer lining the back of the eye that senses light, and creates impulses that travel through the optic nerve to the brain
hemoglobinuria
decreased luteinizing hormone level lower than normal concentration of LH
disorganized placental labyrinth derangement of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood
abnormal circulating interleukin-18 level anomaly in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity
absent axillary lymph nodes absence of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region
abnormal huddling behavior deviation from the usual tendency of mice to pile together when sleeping
abnormal neopterin level anomaly in the concentration of a pteridine derivative, which is present in body fluids and is a precursor in the biosynthesis of biopterin; elevated levels result from immune activation, malignant disease, allograft rejection, and viral infection
increased physiological sensitivity to xenobiotic decrease in the dose or concentration of a foreign compound required to induce a specific level of physiological response
abnormal subiculum morphology any structural anomaly of the transitional zone between the parahippocampal gyrus and the Ammon gyrus
athyroidism congenital absence of the thyroid gland or suppression or absence of its hormonal secretion
decreased interferon-gamma secretion reduction in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation
increased total retina thickness increased width of the retina through the center plane
disorganized myocardium derangement of the pattern cardiac muscle layers
absent myocardial trabeculae absence of the supporting bundles of muscular fibers lining the walls of the heart
abnormal seminiferous tubule epithelium morphology any structural anomaly of the stratified epithelial lining of the seminiferous tubules, consisting of the developing spermatozoa and the supporting Sertoli cells, which are tall, columnar type cells that line the tubule
abnormal intervertebral disk development any anomaly in the formation of the cartilaginous and gelatinous structure found between vertebrae
abnormal afterhyperpolarization anomaly in the currents that follow an action potential and influence firing frequency and neuronal integration
myocardial fiber degeneration deterioration or destruction of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart
abnormal ameloblast morphology any structural anomaly of the epithelial cells of the inner layer of the enamel organ of the developing tooth
priapism A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain.
abnormal litter size deviation from the normal number of live born pups in a litter
abnormal b-2 b cell morphology any structural anomaly of a conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells
abnormal lung lobe morphology any structural anomaly of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls of connective tissue)
enlarged nasal bone increased size of either of two rectangular bone plates forming the bridge of the nose
increased urine histidine level increased excretion of histidine and related imidazole metabolites in urine
abnormal coronary vein morphology any structural anomaly of any of the veins that return blood from the heart muscles to the right atrium through the coronary sinus
absent vertebrae
abnormal eye posterior chamber morphology any structural anomaly of the ring-like space, filled with aqueous humor, between the iris/pupil anteriorly and the lens and ciliary body posteriorly
abnormal adrenal gland morphology any structural anomaly of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla
altered tumor susceptibility greater than or less than the average number of tumors, usually a specific type, arising in a given organism when compared to controls
ectopic cerebral cortex pyramidal cells the cerebral cortex pyramidal cell body resides in places other than the pyramidal cell layer of the cerebral cortex
thymus atrophy acquired diminution of the size of the thymus associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
atrial thrombosis formation or presence of a thrombus in the atria of the heart
increased myocardial infarction size increased size of necrotic area from normal of the myocardium resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors
abnormal primordial ovarian follicle morphology any structural anomaly in the ovarian follicle in which the primary oocyte is surrounded by a single layer of flattened follicular cells; primordial follicles are indiscernible to the naked eye and develop to primary, secondary, and finally mature vesicular follicles
polysyndactyly Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.
abnormal aorta elastic fiber morphology any structural anomaly of the slender connective tissue fiber in aortic tissue characterized by great elasticity
abnormal pre-b cell morphology any structural anomaly of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface
increased susceptibility to dystrophic cardiac calcinosis more likely to be stricken by dystrophic cardiac calcinosis
liver vascular congestion obstruction of the normal flux of blood within the blood vessel network of the liver
situs inversus totalis A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.
increased mammary adenoacanthoma incidence higher than normal incidence of malignant tumors in which some cells have undergone squamous metaplasia in the mammary gland
arachnodactyly Abnormally long and slender fingers (spider fingers).
increased circulating amylase level greater concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood
abnormal thyroid gland isthmus morphology any structural anomaly of the narrow median bridge that joins together the lower thirds of the two lateral (right and left) lobes of the thyroid gland and usually covers the second and the third tracheal rings; the thyroid isthmus is variable in presence and size, can change shape and size, and can encompass a cranially extending pyramid lobe (lobus pyramidalis or processus pyramidalis), remnant of the thyroglossal duct
abnormal zygomatic arch morphology any structural anomaly of the bony arch in vertebrates that extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone
abnormal cerebellum dentate nucleus morphology any structural anomaly of the largest and most lateral of the deep cerebellum nuclei; it receives axons of Purkinje cells in the lateral cerebellar hemisphere (neocerebellum) and receives its afferents from the premotor cortex and the supplementary motor cortex through the pontocerebellar system, and its efferents project through the superior cerebellar peduncle and is a major source of its fibers
abnormal large intestine placement different location or arrangement of the large intestinal tract
polyphalangy increased number of phalanges in any of the digits
preaxial polydactyly A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.
abnormal eye pigment epithelium morphology
increased testicular teratoma incidence
abnormal alkaline phosphatase activity anomaly in the ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum
decreased incidence of tumors by ionizing radiation induction lower than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays
abnormal renal glucose reabsorption any anomaly in the process in which glucose is taken up from the collecting ducts and proximal and distal loops of the nephron
brain atrophy Partial or complete wasting (loss) of brain tissue that was once present.
abnormal alveolar macrophage morphology any structural anomaly of the round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells
ascending aorta aneurysm a protruding sac formed by the dilation of the wall of the of the part of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch, resulting from a weakening of the vessel wall
decreased circulating atrial natriuretic factor less than the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator
abnormal pineal gland morphology any structural anomaly of the unpaired epithalamic structure that is shaped like a tiny pine cone and located above the posterior commissure near the level of the habenular complex and the sylvian aqueduct; it is both a circumventricular organ and an endocrine organ that secretes melatonin, a serotonin-derived hormone involved in the regulation of circadian rhythms; the pineal parenchyma, consisting of pinealocytes, interstitial (glial-like) cells, phagocytes and capillaries, is arranged into large folliculi separated by septae of connective tissue and blood vessels
abnormal peritoneal vaginal process morphology any structural anomaly of the peritoneal diverticulum in the embryonic lower anterior abdominal wall that traverses the inguinal canal; in the male it forms the tunica vaginalis testis and normally loses its connection with the peritoneal cavity; a persistent processus vaginalis in the female is known as the canal of Nuck
increased osteosarcoma incidence
abnormal cranium morphology any structural anomaly of the bones of the head
abnormal platelet shape A deviation from the normal discoid platelet shape.
enlarged salivary gland increased size of the saliva-secreting glands of the oral cavity
impaired myelopoiesis atypical process of bone marrow cell formation and/or the formation of bone marrow-derived blood cells with the result of fewer of these cells being formed
abnormal thalamus neuron morphology any structural anomaly of the impulse-conducting cells in the thalamus or its parts, a midline paired symmetrical structure between the cerebral cortex and midbrain within the brain that controls the flow of information to the cortex
skeletal muscle atrophy A process, occurring in skeletal muscle, that is characterized by a decrease in protein content, fiber diameter, force production and fatigue resistance in response to different conditions such as starvation, aging and disuse.
uterus hyperplasia overdevelopment or increased size, usually due an increased number of cells in the uterus
absent thyrotrophs absence of an anterior pituitary cell that produces thyroid-stimulating hormone
abnormal canal of schlemm morphology any structural anomaly in the vascular structure encircling the anterior chamber of the eye, through which the aqueous humor is returned to the blood circulation
optic neuropathy
enlarged third ventricle increased size of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina
absent adrenal gland absence of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla
malleus hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the largest of the three auditory ossicles, which resembles a club or hammer
bifurcated tongue tongue is split into two halves at the anterior tip; this is normal in some animals such as reptiles
abnormal pericardial cavity morphology any structural anomaly of the anatomical body cavity in which the heart lies; the pericardial cavity forms in the lateral plate mesoderm above the buccopharyngeal membrane, as part of the early intraembryonic coelom, and is initially continuous with the two early pleural cavities
decreased cochlear nerve compound action potential reduction of the combined potentials resulting from activation of the auditory division of the eighth cranial nerve
intrahepatic cholestasis Xref MGI.
brittle teeth fragile and likely to break teeth
abnormal l5 dorsal root ganglion morphology any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the fifth lumbar vertebra
increased circulating pituitary hormone level greater than expected concentration of any of the pituitary hormones in the blood
increased diameter of radius increased width of the cross-sectional distance that extends from one lateral edge of the radius, through its center and to the opposite lateral edge
increased autoantibody level elevated level of antibodies to self-antigens present in the sera; often indicative of autoimmune disease
aganglionic megacolon A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
partial atrioventricular septal defect
abnormal plant sterol level anomaly in the amount of plant sterols often as a result of hyperabsorbtion of phytosterols and decreased biliary excretion of dietary sterols;commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol
abnormal prostate gland branching morphogenesis anomaly of the prostatic bud to repeatedly divide into lobules during development of the prostate gland
increased anti-single stranded dna antibody level increase in the level of antibodies that recognize single stranded DNA
increased circulating interleukin-10 level increase in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation
abnormal dermal mast cell morphology any structural anomaly of cells located in connective tissue of the dermis that contain numerous basophilic granules and release substances such as heparin and histamine in response to injury or inflammation
increased rhombomere 3 size increased size of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order
abnormal pregnancy any anomaly in the process of maintaining a developing embryo or fetus within the female body from conception to birth
decreased cytotoxic t cell cytolysis impaired ability of cytotoxic T cells to induce pathological breakdown of target cells by the destruction of their outer membrane
abnormal gastric parietal cell morphology any structural anomaly of the gastric acid producing epithelial cells that are distributed throughout the length of the gastric gland
increased airway responsiveness
abnormal gastrulation movements failure of embryonic cells to migrate, or migrate to the appropriate target during the development and invagination of the primary germ layers
abnormal bulbus cordis morphology any structural anomaly of a transient fetal dilation of the distal (or cranial) heart tube located where the arterial trunk joins the ventral roots of the aortic arches
abnormal bronchioalveolar stem cell morphology any structural anomaly of a respiratory stem cell found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury
decreased susceptibility to induction of seizure by inducing agent higher threshold to induction of seizure activity response by an agent that normally can induce uncontrolled electrical activity in the brain, producing a physical convulsion and/or minor change in physical behavior
increased systemic arterial blood pressure increased tension of the blood within the systemic arteries
abnormal lens vesicle development malformation or abnormal patterning of the ectodermal invagination that forms opposite the optic cup in the primordium of the lens of the eye
abnormal cerebellum development aberrant or incomplete differentiation of the part of the metencephalon that lies dorsal to the pons and medulla behind the brain stem and controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills
abnormal vascular wound healing anomaly in the repair process of damaged blood vessels after injury
abnormal brachial lymph node morphology any structural anomaly of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes
pup cannibalization the killing and eating of newborn mice by the mother; however, this can be a normal response if the mother does not recognize the pups as her own
abnormal pacinian corpuscle morphology any structural anomaly of any of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin, and which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers; trasmit signals generated by vibrations when grasping an object
abnormal operant conditioning behavior anomaly in the operant conditioning system refers to abnormalities in scheduled controlled behavior; behavioral assessment occurs in an automated chamber where responses are reinforced with food
abnormal trunk neural crest cell migration any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise from the trunk neural crest which lies between the vagal and sacral neural crest; there are two major pathways taken by the migrating trunk NCCs: (1) one group of cells fated to become melanocytes (the melanin-forming pigment cells) migrates dorsolaterally into the ectoderm towards the ventral midline and colonizes the skin and hair follicles; (2) a second group of cells migrates ventrolaterally through the anterior portion of each sclerotome; the cells that remain in the sclerotome form the dorsal root ganglia containing the sensory neurons, whereas those that continue more ventrally form the sympathetic ganglia, chromaffin cells of the adrenal medulla, Schwann (precursor) cells, and the nerve clusters surrounding the aorta
abnormal multipotent stem cell morphology any structural anomaly of the specialized cells that are committed to giving rise to cells with particular functions
increased circulating lactate dehydrogenase level elevated blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types
decreased circulating interleukin-1 beta level reduction in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane
abnormal peyer's patch morphology any structural anomaly of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles
pharynx stenosis abnormal narrowing or constriction of the passage between the mouth and the posterior nares and the larynx and esophagus
increased left ventricle systolic pressure increase in the pressure in the left ventricle as the heart contracts and pumps blood into the arteries
abnormal systemic vascular resistance anomaly in the normal force opposing blood flow in the peripheral blood vessels
decreased cochlear hair cell number decreased number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve
cyclopia Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.
enlarged fourth ventricle An abnormal dilatation of the fourth cerebral ventricle.
abnormal vitamin d level any anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3)
intestinal inflammation
abnormal gustatory papillae taste bud morphology any structural anomaly of the taste buds located on the gustatory papillae, which includes the fungiform, foliate, and circumvallate papillae
abnormal vibrissae reflex animals do not change position in response to stimulation of the whiskers
ovarian follicular cyst a sac filled with fluid that may develop when the structure containing the egg fails to break open at the time of ovulation
pancreas cysts
abnormal extracutaneous pigmentation anomaly in the coloration of organs and tissues excluding the integument due to changes in the amount, shape, or distribution of cells producing pigment
enlarged spinous cells increased size of the immature keratinocytes of the spinous layer of the epidermis
decreased inner cell mass proliferation
increased collagen deposition in the muscles accumulation of collagen within the muscles
abnormal cerebellar hemisphere morphology any structural anomaly of the paired regions of the cerebellum that lie outside and lateral to the central vermis
optic nerve atrophy acquired diminution of the size of the second cranial nerve which is responsible for conveying visual information from the retina to the brain, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
hemochromatosis A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.
small spleen decreased spleen size
abnormal mesenteric fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the mesentery
absent nk t cells absence of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments
abnormal circulating dihydrotestosterone level aberration in the blood concentration of a potent androgenic metabolite of testosterone
decreased cochlear microphonics reduction of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound
abnormal rostral-caudal axis patterning anomaly in the development or formation of the axis that runs from the head to the tail of the body
abnormal otic pit morphology any structural anomaly of the pair of depressions of thickened otic placode epithelium, that further develops into the otic vesicles
nephron necrosis morphological changes resulting from pathological death of nephron tissue; usually due to irreversible damage
distended jejunum an expansion in the volume of the portion of the small intestine that extends from the duodenum to the ileum
maxilla hypoplasia
gallstones Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin.
early reproductive senescence loss of reproductive capacity occurring at an earlier than expected age
increased pp cell number increased number of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas
abnormal glutamate-mediated receptor currents change in the measured amplitude, current density or duration of response to stimulation of glutamatergic receptors
abnormal leukotriene level abnormal concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells
abnormal olfactory sensory neuron morphology any structural anomaly of the neurons in the olfactory epithelium that are activated by specific odorants
uterine cervix hypoplasia underdevelopment or reduced size of the cervix, usually due to a reduced number of cells
abnormal stomach enteroendocrine cell morphology any structural anomaly of the various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the stomach
leukocyturia presence of white blood cells in the urine
lung situs inversus
esophagus hyperplasia overdevelopment or increased size, usually due an increased number of cells of the esophagus
abnormal alcohol consumption aberrant behavioral-related or physiological-related intake of alcohol into the body
absent stapes Aplasia of the stapes.
abnormal testis weight anomaly in the average weight of the male reproductive glands
increased vascular permeability greater or faster ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases
abnormal blood vessel endothelium morphology any structural anomaly of the thin layer of flat cells that line the blood vessels and form a barrier between circulating blood in the lumen and the rest of the vessel wall
aortic dissection Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.
abnormal schwann cell proliferation any anomaly in the ability of a Schwann cell to undergo rapid expansion by cell division
decreased lean body mass reduced amount of the fat-free physical bulk or volume of the body including all its components except adipose (fat) tissue
abnormal immunoglobulin level An abnormal deviation from normal levels of immunoglobulins in blood.
decreased small intestinal villus size reduced size of the tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold
abnormal forebrain morphology any structural anomaly of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions)
decreased diameter of femur reduced width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge
abnormal central pattern generator function any functional anomaly of the neural networks that produce rhythmic patterned output without sensory input and underlie rhythmic motor patterns
disorganized mitochondrial cristae derangement of the pattern of the inward folds of the mitochondrial inner membrane
abnormal cell physiology any functional anomaly of the vital processes of the cell
fused tracheal cartilage rings fusion of the 16-20 incomplete rings of hyaline cartilage that form the skeleton of the trachea
increased pancreatic acinar cell carcinoma incidence greater than the expected number of an adenocarcinoma arising from cells of the pancreas that secrete digestive enzymes, occurring in a specific population in a given time period
absent corpus luteum absence of the yellow endocrine body formed in the ovary after follicle rupture
adrenal gland hypoplasia Developmental hypoplasia of the adrenal glands.
absent eye pigmentation absence of melanin (pigment) in the eye either due to absent melanocytes or failure of melanin synthesis
abnormal basioccipital bone morphology any structural anomaly of the basilar process of the occipital bone in the base of the cranium, frequently forming a direct part of the occipital in the adult, but usually distinct in the young
abnormal placenta morphology any structural anomaly of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin
short palate Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).
megacolon A colonic disease that is characterized by an abnormal dilation of the colon.
absent subcutaneous adipose tissue absence of adipose tissue beneath the skin
proteinosis disordered protein formation and distribution, especially manifested by the accumulation of excess or abnormal proteins in tissues
abnormal cerebellar purkinje cell layer any structural anomaly of the cell layer that lies just underneath the molecular layer of the cerebellar cortex; it contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer, and candelabrum interneurons are vertically oriented between the Purkinje cells
absent testis cords missing the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence
increased circulating interleukin-1 alpha level increase in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active
abnormal submandibular gland morphology any structural anomaly of either of the large major salivary glands situated beneath the mandible
abnormal gaba-mediated receptor currents change in the measured amplitude, current density or duration of response to stimulation of GABA receptors
abnormal b cell morphology any structural anomaly of lymphocytes that expresses membrane-bound immunoglobulin complexes in the mature form, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens
increased muscle tumor incidence greater than the expected number of tumors originating in muscle tissue in a given population in a given time period
absent allantois missing fetal membrane which contributes to the formation of the umbilical cord and placenta
abnormal impulsive behavior control any anomaly in the ability of an individual to exert restraint over behavior
absent modiolus absence of the central cone shaped core of spongy bone about which turns the spiral canal
decreased adrenocorticotropin level decreased concentration of adrenocorticotropic hormone
decreased corneal stroma thickness reduced width of the lamellated connective tissue layer of the cornea
enlarged endometrial glands increase in the average size of the simple or branched tubular glands located in the mucous membrane of the uterus
increased pituitary melanotroph tumor incidence greater than the expected number of neoplasms derived from the cells of intermediate pituitary that produce melanocyte stimulating hormone and other peptides from the post-translational processing of pro-opiomelanocortin (POMC)
decreased colliculi size smaller inferior and superior colliculus
abnormal miscarriage rate change in frequency of a natural or accidental termination of a pregnancy at a stage where the embryo or the fetus is incapable of surviving independently of the mother
herniated liver protrusion of any portion of the liver from its normal anatomical position
alopecia A hypotrichosis that is characterized by a loss of hair from the head or body.
shallow orbits Reduced depth of the orbits associated with prominent-appearing ocular globes.
increased regulatory t cell number greater number of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity
abnormal pulmonary circulation any anomaly in the circulation of blood through the lungs
abnormal anterior lingual gland morphology any structural anomaly of the small glands located near the apex of the tongue on either side of the frenulum
palatal shelf hypoplasia reduced size of the palatal projections from the inner part of the maxillary processes that fuse to form the secondary palate, often due to reduced cell number
abnormal coronary flow rate aberrant rate of blood flow in the blood vessels supplying the heart
abnormal erythrocyte potassium level anomaly in the amount in red blood cells of potassium
abnormal urine insulin level any change in the amount of insulin in the urine
decreased brain size
abnormal pulmonary valve cusp morphology any structural anomaly of the three fibrous triangular components and associated flap of the pulmonary valve
abnormal lacrimal bone morphology any structural anomaly of the irregularly thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla
abnormal retinal rod cell outer segment morphology any structural anomaly of the retinal rod cell region which contains stacks of membranous discs separate from the outer cell membrane that are rich in the visual pigment rhodopsin
abnormal retinal bipolar cell morphology any structural anomaly of the cells that transmit signals from the photoreceptors to retinal amacrine and ganglion cells
abnormal foregut morphology any structural anomaly of the anterior portion of the primitive digestive tube of the embryo that lies cephalic to the junction of the yolk stalk, consists of endodermal tissue, and gives rise to the pharynx, lower respiratory system, esophagus, stomach, duodenum proximal to the biliary tract, liver, pancreas, biliary tract, and gall bladder
decreased lumbar vertebrae number reduced number of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae
increased interferon-gamma secretion increase in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation
increased lens epithelium apoptosis increase in the number of lens epithelial cells undergoing programmed cell death
abnormal meibomian gland morphology any structural anomaly of the sebaceous glands embedded in the tarsal plate of each eyelid
hyposulfatemia abnormally low concentration of sulfate in the circulating blood
enhanced sensorimotor gating amplification of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI)
abnormal rhombomere 5 morphology any structural anomaly of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order
absent olfactory bulb absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex
decreased b-1b cell number
absent aorticopulmonary septum absence of the spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta
failure of bone ossification failure to initiate or a block in the process of the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
decreased hippocampal commissure size reduced size of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side
absent forelimb absence of the projecting rostral-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm or front limb in mammalian species
retinal degeneration
enlarged esophagus
abnormal pollex morphology any structural anomaly of the first or primary digit on the radial side of the hand
decreased stereotypic behavior less frequent incidence of repetitive, invariant, persistent motor patterns that do not appear to be purposeful
narcolepsy A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
abnormal basophil morphology any structural anomaly of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size; these cells contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation
increased diameter of ulna increased width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge
sensorineural hearing impairment a form of hearing impairment due to a lesion of the auditory division of cranial nerve VIII or the inner ear
decreased germ cell number reduced numbers of any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated
abnormal total lung capacity anomaly in the volume of air contained in the lungs at the end of maximal inspiration
abnormal joint morphology An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
abnormal hippocampus pyramidal cell layer
absent deiters cells absence of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities
abnormal vitamin metabolism any anomaly in the chemical reactions and pathways involving a vitamin, including metabolic, catabolic and biosynthetic processes
abnormal brown adipose tissue morphology any structural anomaly of the thermogenic form of adipose tissue that is composed of brown adipocytes
decreased urine phosphate level
absent scala media missing spiral tube within the cochlea that contains the organ of Corti, the neuroepithelial receptor organ for hearing
abnormal internal nares morphology any structural anomaly of the portion of the opening of the nasal cavity into the nasal pharynx
increased reproductive system tumor incidence greater than the expected number of tumors originating in the reproductive system in a given population in a given time period
abnormal circulating interleukin-4 level anomaly in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells
absent nephron complete absence of functional filtering units in the kidney
absent malleus processus brevis absence of the short projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane where the tympanic cavity makes a deep pocket (epitympanic pocket) surrounding the cartilaginous nodule
hypochromic anemia
decreased pancreatic beta cell number fewer than normal number of the cells of the pancreas that secrete insulin
abnormal golgi tendon organ morphology any structural anomaly of the sensory organ in muscle that is involved in regulating muscle tension
abnormal level of surface class ii molecules deviation from the normal concentration of major histocompatibility complex class II molecules expressed at the cell surface
abnormal spleen red pulp morphology any structural anomaly of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation
abnormal chromosome pairing during meiosis an anomaly in the highly specific side-by-side association of homologous chromosomes during first prophase of meiosis
failure of chorioallantoic fusion failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois
rhombomere fusion the union of one or more rhombomeres into a single structure
decreased cajal-retzius cell number reduced number of the distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus
increased susceptibility to weight loss greater decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction, infection or xenobiotic treatment
increased transitional stage t1 b cell number greater number of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative
increased nervous system tumor incidence greater than the expected number of tumors originating in the nervous system in a given population in a given time period
abnormal nervous system electrophysiology An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.
minimal clonic seizures seizures involving rhythmic face and forelimb clonus including arm movement, and it may include rearing and falling and ventral flexion of the neck; a seizure is scored as minimal when it satisfies the minimal criteria up to or including ventral flexion, but does not include maximal tonic hindlimb extension
abnormal lymph node cortex morphology any structural anomaly in the outer area of the lymph node that has B and T cell domains
absent cochlear ganglion absence of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)
abnormal cd8 positive, alpha-beta intraepithelial t cell morphology any structural anomaly of a CD8-positive, alpha-beta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements
abnormal induced morbidity/mortality differences from the expected diseased state or death caused by an external intervention
abnormal seminal vesicle weight anomaly in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens
delayed heart development late onset of the induction and/or differentiation of the heart
decreased airway resistance reduced opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow
impaired righting response reduced ability or greater amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position
abnormal adrenal chromaffin cell morphology any structural anomaly of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine and norepinephrine secretion
abnormal fertilization anomaly in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei
abnormal intestine copper level an anomaly in the amount of copper present in the intestine
increased neuron apoptosis increase in the number of neurons undergoing programmed cell death
corneal scarring
decreased pancreatic islet number reduction in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas
abnormal bile duct morphology any structural anomaly of the channels that secrete bile from the liver to the gall bladder and intestines
retinal pigment epithelium atrophy acquired diminution of the size of the epithelial layer of the retina composed of cells containing pigment granules, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
abnormal afferent lymphatic vessel morphology any structural anomaly in the lymphatic tubes entering the lymph node
decreased skin tensile strength reduction in the normal maximum tension the skin can withstand without tearing
advanced circadian phase increase in the phase relationship between a temporal synchronizing event (such as light cycle) and a phase reference point of an animal (such as activity onset)
abnormal miniature excitatory postsynaptic currents defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse
dilated lateral ventricles the luminal space of the lateral ventricles is increased in volume or area, usually with an increase in contained fluid, in the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle
thin stria vascularis reduced thickness of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph
short premaxilla reduced length of the anterior and interior portion of the maxilla
enlarged testis
abnormal primary ovarian follicle number abnormal numbers of the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the follicle becomes surrounded by a sheath of stroma, the theca
abnormal femur morphology any structural anomaly of the long bone of the thigh
abnormal mandibular nerve morphology any structural anomaly of the motor and sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the auricle, the external acoustic meatus, tympanic membrane, temporal region, the cheek, the skin overlying the mandible, the anterior portion of the tongue, the floor of the mouth, lower teeth and gingiva and transmits motor information from the muscles of mastication, the mylohyoid muscle and digastric muscle and the muscles tensor tympani and tensor veli palatini
abnormal body length any anomaly in the measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction
abnormal sperm flagellum morphology any structural anomaly of the whiplike posterior filiform portion of the spermatozoon composed of a number of cytoskeletal elements whose proper assembly is critical for sperm motility; the mammalian flagellum is structurally divided into four major parts: the connecting piece, the midpiece, the principal piece, and the end piece
abnormal spinal cord dorsal horn morphology any structural anomaly of the pronounced, dorsolaterally oriented ridge of grey matter in each lateral half of the spinal cord
sirenomelia A developmental defect in which the legs are fused together.
abnormal cervical vertebrae morphology any structural anomaly of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull
abnormal kinocilium morphology any structural anomaly of the nonmotile primary cilium that is found at the apical surface of auditory receptor cells
abnormal peyer's patch number anomaly in the number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles
abnormal optic placode morphology any structural anomaly of the paired thickenings of surface ectoderm that become invaginated to form the embryonic lens vesicles
anotia Complete absence of any auricular structures.
decreased aorta elastin content reduction in the physical amount of elastin in the aorta compared to the normal state
increased endometrial carcinoma incidence
ventricle myocardium hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the ventricular part of the heart myocardium
disorganized secondary lens fibers deformation or misalignment of the elongated cells that form the crystalline lens
increased single cell response threshold increase in the value at which a stimulus first elicits a recordable response recorded in a single cell
abnormal cd4-positive helper t cell morphology any structural anomaly of a CD4-positive, alpha-beta T cell that cooperates with other lymphocytes via direct contact or cytokine release to initiate a variety of immune functions
abnormal b lymphocyte antigen presentation anomaly in the ability of B lymphocyte to process and/or present antigen
abnormal insulin-like growth factor i level anomaly in the concentration of a polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities
axonal dystrophy axon degeneration that may result from genetic abnormalities or inadequate or faulty metabolism
lethality at weaning premature death at weaning age, often due to the inability to make the transition to solid food
increased circulating interleukin-16 level increase in the amount in the blood of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes
abnormal magnesium ion homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of magnesium ions within the body or between a cell and its external environment
abnormal somatic motor system morphology any structural anomaly of the neural tissue involved in the transmission of motor signals
intestinal edema Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.
absent vibrissae absence of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors
abnormal hippocampus physiology any functional anomaly related to processes in the deep lying structure of the cerebrum involved with memory storage and spatial navigation
abnormal circulating iron level anomalous blood concentration of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes
decreased ovary weight reduction in the average weight of the female reproductive gland containing the germ cells
abnormal neural tube closure any anomaly in the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline
impaired granulocyte bactericidal activity inability or reduced ability of neutrophils, eosinophils, or basophils to kill bacteria
hyperchromic macrocytic anemia A type of anemia cahracterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin.
abnormal organ of corti supporting cell number abnormal number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti
petechiae Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.
lumbar vertebral fusion the union of one or more lumbar vertebrae into a single structure
ataxia
increased carcinoma incidence greater than the expected number of any of a variety of malignant neoplasms arising from epithelial cells, occurring in a specific population in a given time period; carcinomas are usually glandular or squamous in origin
disorganized retinal layers derangement of the pattern of the sheets of cells comprising the optic part of the retina
embryonic lethality between implantation and placentation death anytime between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9)
abnormal marginal zone b cell morphology any structural anomaly of a CD23-negative, CD21-positive B cell of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL
podocyte hypertrophy increase in the bulk size of the modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle, due to cell enlargement
abnormal type ii pneumocyte morphology any structural anomaly of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored
decreased t cell apoptosis decrease in the number of T cells undergoing programmed cell death
abnormal cd8-positive, alpha-beta cytotoxic t cell morphology any structural anomaly of a CD8-positive, alpha-beta T cell capable of killing target cells in an antigen specific manner
non-pigmented tail tip lack of color at the end of the tail
increased alcohol consumption greater than normal consumption of alcohol
abnormal pulmonary alveolar system morphology any structural anomaly of the portion of the lung comprised of the pulmonary acinus and the alveolar parenchyma
abnormal distal visceral endoderm morphology any structural anomaly of the precursors of the anterior visceral endoderm that arises at the distal tip of the embryo
abnormal cephalic neural fold morphology any structural anomaly of the elevated margins of the neural groove that are located in the future cephalic region of the embryo
abnormal mature gamma-delta t cell morphology any structural anomaly of a mature T cell expressing an gamma-delta T cell receptor complex
progressive muscle weakness
abnormal brain ventricular system morphology any structural anomaly of the brain ventricles, their associated choroid plexuses or the intercommunicating channels that connect the ventricular system
delayed male fertility ability of a male organism to produce live offspring occurring at a later than expected age
dilated lymph node medullary sinus the luminal space of the lymph node medulla is increased in volume or area, usually with an increase in contained fluid
abnormal hematopoietic stem cell proliferation anomaly in the ability of a hematopoietic stem cell population to undergo expansion by cell division
decreased cerebellar granule cell number reduction in the number of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites
long snout
abnormal optic nerve innervation misprojection or aberrant target finding of the second cranial nerve which is responsible for conveying visual information from the retina to the brain
abnormal stomach epithelium morphology any structural anomaly of the epithelial layer of the stomach
abnormal cranium size deviation from the average range of cranium size compared to normal
absent palatine gland absence of the salivary gland of the hard palate
liver cysts
sinus inflammation
vascular smooth muscle hypertrophy increase in size or thickness of the smooth muscle of the vascular wall
abnormal motile primary cilium physiology any functional anomaly of the cilia of the mouse embryo found on the cells of the embryonic node, which generate flow of extraembryonic fluid surrounding the node in a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization
increased hepatocellular carcinoma incidence
glomerular capillary congestion obstruction of the normal flux of blood within the renal glomerular capillaries
abnormal coat appearance anomaly in the visual apsect of the coat or hair
distended reissner membrane an increase in the volume of endolymphatic fluid that results in distortion of the vestibular membrane
abnormal hematopoietic stem cell physiology any functional anomaly of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages
decreased spongiotrophoblast size reduction of the size of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors
leydig cell hypoplasia
increased saturated fatty acid level elevated concentration of saturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; saturated fatty acids commonly have a chain of 4 to 28 carbons which contains no ethylenic or other unsaturated linkages between carbon atoms
abnormal superior colliculus morphology any structural anomaly of the paired superior eminence of the mesencephalic tectum that is involved in auditory processing
abnormal copper homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of copper that is a cofactor in a number of proteins including amine oxidases and chaperone proteins
gastric polyps abnormal tissue masses that protrude into the lumen of the stomach and are tethered to the wall of the stomach
abnormal distortion product otoacoustic emission any abnormality in the sound produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies; this measurement is particularly useful in assessing the functional state of OHCs
oral atresia congenital blockage, fusion, or absence of the normal opening of the oral cavity
abnormal mononuclear cell morphology any structural anomaly of a leukocyte with a single non-segmented nucleus in the mature form
abnormal autonomic nervous system physiology A functional abnormality of the autonomic nervous system.
lipidosis abnormal fat metabolism with increased accumulation of specific lipids in tissue
abnormal gastric surface mucous cell morphology any structural anomaly of the mucus secreting epithelial cells that line the luminal surface of the stomach and the gastric pits which secrete mucus and HCO3- to protect the gastric surface from the acidic environment of the stomach
abnormal sweat gland physiology any functional anomaly of the coiled tubular glands of the skin that secrete sweat
decreased nerve fiber response threshold reduction in the value at which a stimulus first elicits a recordable response recorded in a single or several nerve fiber(s)
abnormal aorta tunica intima morphology any structural anomaly of the innermost layer of the aorta, containing the endothelium and an inner elastic membrane
abnormal renal plasma flow rate deviation from the normal volume of plasma passing through the kidney per unit time
abnormal breathing pattern irregular or atypical breathing pattern, or absence of breathing
increased urine ph increased urine alkalinity
abnormal pyramidal decussation morphology any structural anomaly of the bundles of pyramidal fibers that intercross obliquely over the midline at the lower border region of the medulla oblongata
patent pulmonary valve the pulmonary valve remains open during the cardiac cycle
increased body temperature greater than the level of heat natural to a living being
abnormal pulmonary interalveolar septum morphology any structural anomaly of the tissue intervening between two adjacent pulmonary alveoli, which consists of the basement membranes of alveolar-lining epithelium (mostly type I pneumocytes) and capillary endothelium; thicker alveolar septal regions may also contain elastic fibers, collagen, interstitial cells, smooth muscle cells, mast cells, lymphocytes and monocytes
abnormal sexual interaction altered initiation, failure of initiation or incomplete mating behavior
decreased salivation
impaired neuron differentiation decreased production of or inability to produce the mature cells of the nervous system that receive, conduct, and transmit impulses
abnormal vein morphology any structural anomaly of the blood vessels that carry blood towards the heart
abnormal outer ear morphology any structural anomaly of any components of the auricles or external acoustic meatus
mammary gland hypoplasia underdevelopment or reduced size of the mammary gland, usually due to a reduced number of cells
abnormal epidermal melanocyte morphology any structural anomaly of the cells that produce pigment in the epidermis
abnormal spleen mesenchyme morphology any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing spleen
abnormal embryonic growth/weight/body size limited or accelerated growth or development apparent during the embryonic period (sensu Mus: up to E14, or the completion of organogenesis)
abnormal iga level deviation from the normal levels of immunoglobulin class A level
increased circulating vldl cholesterol level greater amount in the blood of the lipoprotein:cholesterol complex that transports triglycerides from the intestine and liver to muscle and adipose tissue
absent pulmonary neuroendocrine bodies absence of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors
small olfactory bulb reduced size of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex
congestive heart failure Heart failure caused by dysfunction of the MYOCARDIUM, leading to defective cardiac emptying (contraction) or filling (relaxation).|Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.|Heart failure involving the LEFT VENTRICLE.|Heart failure involving the RIGHT VENTRICLE.|A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.|1. inadequacy of the heart so that as a pump it fails to maintain the circulation of blood, with the result that congestion and edema develop in the tissues; SEE ALSO forward heart failure, backward heart failure, right ventricular failure, left ventricular failure. SYN cardiac failure, cardiac insufficiency, congestive heart failure, myocardial insufficiency. 2. resulting clinical syndromes including shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales in various combinations.|Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs.
increased myelin sheath thickness increase in the depth of the insulating envelope that surrounds nerve fibers or axons
abnormal red blood cell distribution width an anomaly in the coefficient of variance (reference range) of the red blood cell volume for an organism
thick epidermis stratum granulosum increased thickness of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis
abnormal enteric nervous system morphology any structural anomaly of the part of the autonomic nervous system that innervates the gastrointestinal tract, the pancreas, and the gallbladder and can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport
increased cochlear inner hair cell number increased number (or more than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti
decreased circulating creatine kinase level a reduction in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
impaired neutrophil chemotaxis defect in the movement of neutrophils guided by a specific chemical concentration gradient
absent cerebellar foliation missing small branches of the cerebellar lobules
increased alveolar lamellar body number greater number of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant
renal/urinary system inflammation local accumulation of fluid, plasma proteins, and leukocytes in the renal/urinary system; may involve inflammation of the urethra, urinary bladder, ureters or kidneys
scaly skin skin covered with shedding scales
abnormal ovarian secretion anomaly in the production and/or release of hormones from ovarian tissue
abnormal egg cylinder morphology any structural anomaly in the transient cup-like structure of the epiblast that consists of a single layer of embryonic cells
absent seminal vesicle absence of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens
impaired contractility of urinary bladder detrusor smooth muscle inability or reduced ability of the detrusor smooth muscle of the urinary bladder to shorten or to develop increased tension voluntarily or involuntarily; stretching of the smooth muscle fibers by accumulation of urine in the bladder leads to nervous signaling giving the urge to urinate; contraction of the detrusor muscle leads to urination, via emptying of the urine contained in the bladder through the urethra and urine excretion
scrotum hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the external sac of skin that encloses the testes
abnormal lateral semicircular canal morphology any structural anomaly of the lateral long bony tube of the labyrinth that is involved in the sense of balance
enlarged pituitary gland An abnormally increased size of the pituitary gland.
abnormal retinal photoreceptor morphology any structural anomaly of a cell specialized to detect and transduce light, including rods and cones of the retina
cerebral arteriovenous malformation
abnormal dna repair any anomaly in the process of restoring DNA after damage or replication error
abnormal lymph node medulla morphology any structural anomaly in the area of the lymph node through which lymph leaves the node; it contains macrophages and antibody-secreting plasma cells
small inner medullary pyramid reduced size of pyramidal masses; contain part of the secreting tubules and collecting tubules
abnormal stomach submucosa morphology any structural anomaly of the fibrous connective tissue layer beneath the stomach mucosa
decreased energy expenditure decrease in the number of calories used per unit time or increase in weight gain for a given amount of food eaten
diencephalon hypoplasia underdevelopment or decreased size, usually due an increased number of cells in the rostral portion of the brain stem
abnormal retinal blood vessel morphology any structural anomaly of the blood vessels supplying the retina
abnormal lung endothelial cell migration anomaly in the movement of endothelial cells or their precursors to the appropriate location in the pulmonary vasculature
abnormal spleen physiology any functional anomaly of the organ that filters blood and stores red corpuscles and platelets
polar cataracts a lens opacity, usually disk-shaped, that is limited to an area in the anterior or posterior pole of the lens capsular region
increased incidence of tumors by chemical induction higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens
absent vestibuloocular reflex absence of nystagmus or deviation of the eyes in response to stimulation of the vestibular system
impaired discrimination learning impaired ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus
abnormal myotome morphology any structural anomaly of the mesoderm that is derived from the somite that is fated to become the musculature
abnormal response/metabolism to endogenous compounds altered ability or inability to metabolize or respond to substances normally present in the body
abnormal ophthalmic nerve morphology any structural anomaly of the sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the orbit and its contents, the nasal cavity and the skin of the nose and forehead
abnormal mitochondrial inner membrane morphology any structural anomaly of the inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope, which is highly folded to form cristae
pigmented parathyroid gland presence of melanocytes and/or melanin in either of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism
abnormal uterus weight anomaly in the weight of the female organ of gestation
spiral modiolar artery stenosis abnormal narrowing of the artery which parallels the spiral ganglion in the root of the spiral lamina of the modiolus and serves the ganglion and the cochlear duct and its contents
delaminated enamel separation of the hard outer coating of the exposed portion of the tooth from the underlying hard tissue
abnormal ureteric bud elongation any anomaly in the process in which a ureteric bud grows along its axis
short excitatory postsynaptic current decay time
increased sebaceous gland adenoma incidence
cochlear ganglion hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)
decreased circulating interleukin-6 level reduction in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts
abnormal cortical intermediate zone morphology any structural anomaly of the region of the developing mammalian cortex that extends between the ventricular zone and the cortical plate (CP); normally, the IZ is a region of tangential migration of cells, and at midgestation, the lower part of the IZ develops into the subventricular zone
abnormal respiratory electron transport chain anomaly in the process in which a series of electron carriers operate together to transfer electrons from donors such as NADH and FADH2 to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient
spina bifida cystica
abnormal foam cell morphology any structural anomaly of a cell with a vacuolated appearance due to abnormal deposition and retention of lipoproteins, and typically seen in atherolosclerotic lesions, as well as other conditions, and derived from or related to the group of cells having the ability to take up and sequester inert particles and vital dyes, including macrophages and macrophage precursors, specialized endothelial cells lining the sinusoids of the liver, spleen, and bone marrow, and macrophages of lymphatic tissue and fibroblasts of bone marrow
decreased survivor rate a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls
abnormal circulating antithrombin level aberrant blood level of the family of glycoproteins which neutralize the ability of thrombin to promote blood coagulation
increased desmoid tumor incidence
abnormal placenta development malformed or incomplete differentiation of the organ of metabolic exchange between the fetus and mother
abnormal anogenital distance in comparison to the norm, aberration in the measure of the length of space from the genitals to the anus
ileum inflammation
abnormal lens morphology any structural anomaly of the transparent structure of the eye responsible for focusing light rays
decreased platelet calcium level decreased concentration in the platelet of calcium
abnormal spermatocyte morphology any structural anomaly of male germ cells that through meiosis give rise to spermatids
abnormal pancreatic somatostatin secretion anomaly in the production or release from pancreatic delta cells of a 14 amino acid peptide that inhibits growth hormone release and is found in the central and peripheral nervous systems, the gut, and other organs
decreased core body temperature reduced degree of heat natural to the internal center of a living being
decreased circulating progesterone level reduced blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy
abnormal igg2b level deviation from the normal levels of immunoglobulin class G2b level
increased respiratory system tumor incidence greater than the expected number of tumors originating in the respiratory system in a given population in a given time period
abnormal mononuclear phagocyte morphology any structural anomaly of a vertebrate phagocyte with a single nucleus
decreased vasoconstriction reduced ability to constrict the nonstriated, involuntary muscle tissue of the blood vessels
abnormal serous gland morphology any structural anomaly of glands that secrete watery albuminous material that often contains enzymes
aortic sinus aneurysm
abnormal vertebral pedicle morphology Abnormal morphology of a vertebral pedical.
decreased tibialis anterior weight redcution in the weight of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot
abnormal lung elastance anomaly in the ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance
darkened coat color amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is decreased when compared to wild-type agouti
proboscis 1: The trunk of an elephant; also: any long flexible snout. 2: Any of various elongated or extensible tubular processes as the sucking organ of a butterfly of the oral region of an invertebrate.
abnormal a wave implicit time anomaly in the time from the onset of light stimulus to the peak of the a wave
decreased heart rate
decreased susceptibility to type ii hypersensitivity reaction less likelihood of or resistance to developing a response caused by an Ag-Ab reaction; antibodies are directly or indirectly cytotoxic to antigens on cell surfaces or in connective tissues; most often involves IgG and IgM; complement activation is usually involved
absent ureter missing the tube that conducts the urine from the renal pelvis to the bladder
bowed ulna Bending of the diaphysis (shaft) of the ulna.
abnormal deltoid tuberosity morphology any structural anomaly of a rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches
increased cardiomyocyte apoptosis increase in the number of cardiac muscle cells undergoing programmed cell death
abnormal tendon morphology An abnormality of the structure or form of the tendons, also often called sinews.
pancreatic islet hyperplasia overdevelopment or increased size of the clusters of hormone-producing cells that are scattered throughout the pancreas, usually due an increased number of cells
increased spleen neoplasm incidence greater than the expected number of a neoplasm of the spleen, occurring in a specific population in a given time period
abnormal vesicle-mediated transport anomaly in the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell
abnormal reticulocyte cell number altered number of immature (nucleated) erythrocytes
increased susceptibility to weight gain greater increase in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake
decreased single-positive t cell number reduced number of T cells bearing either CD4 or CD8 markers on their surface
abnormal glucose homeostasis Abnormality of glucose homeostasis.
abnormal interventricular groove morphology any structural anomaly of the indentation dividing the two ventricles, comprised of the sulcus interventricularis anterior and the sulcus interventricularis posterior
arrested b cell differentiation inability to produce mature B cells, and accumulation of B cell precursors
impaired branching involved in preterminal bronchiole morphogenesis partial or complete failure of the process in which the branched structure of the preterminal bronchioles are generated and organized
abnormal pulmonary valve morphology any structural anomaly of the valve between the right ventricle and the pulmonary trunk, and contains three cusps, the anterior, right posterior and left posterior cusps, attached to an outer fibrous ring (annulus)
improved righting response faster ability or less amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position
abnormal anterior visceral endoderm morphology any structural anomaly of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue
abnormal systemic arterial blood pressure regulation anomaly in the process that modulates the force with which blood travels through the systemic arterial circulatory system
abnormal cochlear nerve morphology any structural anomaly in the part of the vestibulocochlear nerve [CN VIII] peripheral to the cochlear root; composed of the central nerve processes of the bipolar neurons of the spiral ganglion, which have their peripheral processes on the four rows of neuroepithelial cells (hair cells) of the spiral organ
frontal bone hypoplasia Underdevelopment of the frontal bone.
increased core body temperature increased degree of heat natural to the internal center of a living being
absent cerebellar granule cells absence of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites
abnormal cd8-positive, alpha-beta t cell physiology any functional anomaly of the subset of T lymphocytes that express the CD8 marker on the cell surface
increased pulse pressure increase in the difference between systolic and diastolic blood pressure
increased follicle recruitment greater frequency of the entry of arrested primordial follicles into the pool of growing follicles
abnormal axonal transport any functional anomaly of the directed movement of organelles or vesicles along microtubules in nerve cell axons
small male preputial glands reduced size of the sebaceous glands of the corona and neck of the glans penis
absent nasal bone absence of either of two rectangular bone plates forming the bridge of the nose
dyskeratosis premature keratinization in individual epithelial cells that have not reached the keratinizing surface layer; dyskeratotic cells generally become rounded and they may break away from adjacent cells and fall off
decreased circulating renin level An decreased level of renin (PRO:000013883) in the blood.
remittent intestinal hemorrhage loss of blood from the intestines that is characterized by temporary periods of abatement
increased lysosomal enzyme secretion production or secretion of glycoprotein hydrolytic enzymes is increased compared to normal
abnormal head mesenchyme morphology any structural anomaly of the primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells
increased fetal size larger proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)
abnormal renin activity altered ability of this enzyme to cleave angiotensionogen and create angiotensin I
embryonic epiblast cell degeneration a retrogressive impairment of function or destruction of the cells comprising the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion
abnormal vitelline vascular remodeling anomaly in the conversion of the primary (honeycomb-like) vascular plexus of the yolk sac into a mature vascular network
decreased thymocyte apoptosis reduction in the number of immature T cells located in the thymus that are undergoing programmed cell death
hyperpituitarism
abnormal hippocampus region morphology any structural anomaly of a part or parts of the hippocampus that have a particular function
increased lung compliance increased ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure
absent hindlimb absence of the projecting caudal-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the legs or back limbs in mammalian species
abnormal transitional stage t3 b cell morphology any structural anomaly of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive
abnormal calcium ion homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of calcium ions within the body or between a cell and its external environment
abnormal bone marrow cavity morphology any structural anomaly of the medullary cavities of the bones
blistering
delayed embryo turning completion of axial rotation occurs later than in controls but is eventually completed
decreased rib number A developmental anomaly with absence of one or more ribs.
abnormal heart right atrium morphology any structural anomaly of the right upper chamber of the heart
abnormal intervertebral disk morphology any structural anomaly of the cartilaginous and gelatinous structure found between vertebrae
absent ethmoidal bone missing midline facial bone that encloses the nasal cavity
increased pituitary gland tumor incidence greater than the expected number of neoplams in the pituitary gland occurring in a specific population in a given time period
head mesenchyme hypoplasia underdevelopment or reduced size of the head mesenchyme, usually due to a reduced cell number
abnormal epididymis morphology any structural anomaly of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens
abnormal gait The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
absent pancreatic acinar cell zymogen granule absence of a membrane-bounded, cytoplasmic secretory granule found in pancreatic acinar cells and contains inactive digestive enzyme precursors
dental pulp necrosis
abnormal premaxilla morphology any structural anomaly of the anterior and inner portion of the maxilla
decreased diameter of long bones
increased circulating interleukin-6 level increase in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts
increased keratohyalin granule size increased size of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function
abnormal ventricle myocardium morphology any structural anomaly of the ventricular part of middle layer of the heart, comprised of involuntary muscle
decreased susceptibility to parasitic infection reduced likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by parasites
abnormal physiological neovascularization anomalies in the development of new blood vessels in restoration of blood circulation during the healing process
increased follicular lymphoma incidence higher than normal incidence of malignant lymphoma arising from lymphoid follicular B cells which may be small or large
choroidal neovascularization new, abnormal, vessel development of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera
small geniculate ganglion reduced size of the geniculate ganglion or decreased size of sensory neuron cell bodies associated with the facial nerve
hyperactivity elicited by ethanol administration increased activity after ingestion of alcohol
thoracoschisis congenital fissure of the chest wall
abnormal trophoblast giant cell proliferation abnormality in the expansion rate of the trophoblast giant cell population by cell division
abnormal pleural cavity morphology any structural anomaly of the potential space between the two pleurae (visceral and parietal) of the lungs; the pleural cavity, with its associated pleurae, aids optimal functioning of the lungs during breathing; it normally contains a thin film of serous fluid which lubricates the opposed pleural membranes so that they can glide smoothly against one another during ventilation
increased mitochondria size enlarged the cellular organelles responsible for energy production
calcified mitral valve
caudal body truncation caudal part of body truncated; typically with the rostral portion of the body relatively normal
increased vasoconstriction greater ability to constrict the nonstriated, involuntary muscle tissue of the blood vessels
abnormal olfactory bulb tufted cell morphology any structural anomaly of the principal glutaminergic neuron located in the outer third of the external plexiform layer of the olfactory bulb; a single short primary dendrite traverses the outer external plexiform layer and terminates within an olfactory glomerulus in a tuft of branches, where it receives the input from olfactory receptor neuron axon terminals; axons of the tufted cells transfer information to a number of areas in the brain, including the piriform cortex, entorhinal cortex, olfactory tubercle, and amygdala
abnormal spleen iron level anomaly in the amount of iron present in the spleen tissue
abnormal circulating gonadotropin level aberrant blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis
abnormal forebrain size deviation from the average range of forebrain size compared to normal
decreased circulating interleukin-12 level reduction in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells
abnormal gastrulation any anomaly in the development and invagination of the embryonic germ layers
abnormal epididymis weight anomaly in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens
blotchy skin regions of spotted discoloration appearing in the dermal tissue
right pulmonary isomerism anomaly in the asymmetry of the lung such that the lobes on both the left and right side have the morphology normally seen on the right side of the body
absent superior semicircular canal absence of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance
increased muscle weight greater than average muscle weight
abnormal bone resorption anomaly in the process of degrading the organic and inorganic phases of bone by absorption, usually by the abnormal function or by absence of osteoclasts
increased periosteum thickness increased width of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints
decreased kidney collecting duct number smaller than expected number of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance
abnormal pulmonary alveolar duct morphology any structural anomaly of the respiratory conducting tubes distal to the respiratory bronchiole that lead to the alveolar sacs and the alveoli
absent heart tube absence of the primitive epithelial cardiac tube before the division into the chambers of the mature heart
abnormal bile secretion any anomaly in the quantity or rate of bile secreted through the bile ducts in a given length of time
abnormal cholinergic neuron morphology any structural anomaly of the neurons that utilize acetylcholine as a neurotransmitter, including include alpha-motor neurons of the spinal cord, cranial nerves innervating skeletal muscle, preganglionic sympathetic and postganglionic parasympathetic neurons
abnormal male reproductive system morphology any structural anomaly of the organs associated with producing offspring in the gender that produces spermatozoa
decreased total retina thickness decreased width of the retina through the center plane
abnormal brain ventricle size
gastrointestinal tract polyps abnormal tissue masses that protrude into the lumen of the gastrointestinal tract and are tethered to the wall of the gastrointestinal tract
increased bile salt level increased concentration of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats
delayed sexual maturation immaturity of the sexual organs at a given age
abnormal pheomelanosome pheomelanin content anomaly in the amount or distribution of yellow pigment in the pheomelanosomes of melanocytes
increased thermal nociceptive threshold a greater than average point at which thermal pain sensation is first detectable
increased retinal ganglion cell number greater number of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain
abnormal adenohypophysis development aberrant formation or incomplete differentiation of the anterior lobe of the pituitary gland which arises as a pouch-like outgrowth of ectoderm known as the hypophyseal (Rathke's) pouch from the dorsal midline roof of the stomodeum (primitive oral cavity); the hypophyseal pouch grows toward the brain and the neurohypophyseal bud; as the hypophyseal pouch and the infundibulum make contact, the hypophyseal pouch loses its connection with the pharynx, creating a hollow ball of cells that lies inferior to the floor of the diencephalon posterior to the optic chiasm; these cells undergo division, the central chamber gradually disappears, and this endocrine mass becomes the anterior pituitary gland; the fully developed adenohypophysis consists of a glandular pars distalis, a thin proximal extension called the pars tuberalis, and a narrow pars intermedia
impaired eosinophil recruitment reduced diffusion or accumulation of eosinophils in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions
abnormal circulating c-reactive protein level deviation from the normal levels of the plasma protein that circulates in increased amounts during inflammation or after tissue damage and binds to phosphocholine expressed on the surface of dead or dying cells, including all types of pneumococci, in order to activate the complement system via the C1Q complex
abnormal medulla oblongata anterior median fissure morphology any structural anomaly of the longitudinal groove in the midline of the anterior aspect of the medulla oblongata
macrocytic anemia
enlarged mitral valve an increase in the total area occupied by the mitral valve
abnormal middle ear morphology any structural anomaly of any components of the tympanic cavity or its ossicles
increased jejunum adenocarcinoma incidence higher than normal incidence of a malignant neoplasm of epithelial cells in the jejunum
decreased follicle stimulating hormone level less than expected concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis
enlarged epididymis increase in the average size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens
absent maternal crouching females do not assume a position over young that facilitates suckling behavior
abnormal rostral-caudal body axis extension anomaly in or failure of the long (rostral-caudal) axis of the body to elongate normally once patterning has been established
abnormal digestive system physiology any functional anomaly of the organ system that converts ingested food to nutrients and energy
abnormal pp cell morphology any structural anomaly of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas
abnormal motile primary cilium morphology any structural anomaly of the cilia of the embryo found on the cells of the embryonic node, which generate flow of extraembryonic fluid surrounding the node in a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization
abnormal respiratory bronchiole morphology any structural anomaly of the smallest bronchioles, which connect the terminal bronchioles to alveolar ducts and have alveoli rising from their walls
loss of vibrissae inability to retain the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors
oral leukoplakia A white patch on the oral mucosa that cannot be rubbed off.
abnormal fat cell differentiation abnormal or arrest of differentiation of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals
ectopic leydig cells abnormal position of the interstitial cells of the seminiferous tubules, which normally reside in the peritubular space and extend from the coelomic surface to the dorsal surface of the gonad
pathological neovascularization the proliferation of blood vessels in abnormal tissues or in abnormal positions
abnormal tongue squamous epithelium morphology any structural anomaly of the scaly epithelial layer of the tongue
abnormal ulna morphology any structural anomaly of the medial and larger of the two bones of the forearm
abnormal igg level deviation from the normal levels of immunoglobulin class G level
abnormal cerebellum anterior vermis morphology any structural anomaly of the anterior portion of the narrow middle zone between the two hemispheres of the cerebellum that is located anterior to the primary fissure
increased peroxidase activity increased ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O
bundle branch block Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.
abnormal vestibulocochlear nerve morphology any structural anomaly in the composite sensory nerve innervating the receptor cells of the membranous labyrinth; it consists of two major, anatomically and functionally distinct components, each of which have different central connections: the vestibular nerve and the cochlear nerve
abnormal heart and great artery attachment any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta
increased circulating corticotropin-releasing hormone level higher than average amount of CRH in blood; CRH is normally released by the hypothalamus and stimulates the release of corticotropin by the anterior pituitary gland
myometrium hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium
short proestrus decrease in the length of the proestrous phase of the estrous cycle in female animals
increased prothrombin time
neuron degeneration a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses
abnormal ampa-mediated synaptic currents change in the measured amplitude, current density or duration of response to stimulation of AMPA receptors
chronic constipation Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
absent cochlear nerve absence of the part of the vestibulocochlear nerve [CN VIII] that is peripheral to the cochlear root
absent parathyroid glands missing the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland, which secrete parathyroid hormone (PTH)
absent erythroid progenitor cell lack of progenitors of the erythrocyte lineage
long fibula Disproportionately long fibulae.
abnormal pancreas mesenchyme morphology any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing pancreas
decreased cellular sensitivity to alkylating agents reduced incidence of cell death following exposure to agents that cause DNA damage
decreased prepulse inhibition decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus
abnormal mean corpuscular hemoglobin concentration deviation from the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices
absent vertebral arch loss of the dorsal part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process)
abnormal cellular glucose import anomaly in the ability of a cell to take in glucose from the environment
short ureter reduced length of the tube that conducts the urine from the renal pelvis to the bladder
short humerus Underdevelopment of the humerus.
increased anti-double stranded dna antibody level increase in the level of antibodies that recognize double stranded DNA
increased muscle relaxation greater than the normal ability of the muscle to lengthen following contractions or increase in the ability of the muscle to lengthen following contractions
abnormal cerebellar layer morphology any structural anomaly of the laminar structure of the cerebellar cortex comprising the gray matter of the cerebellum
increased luteinizing hormone level higher than normal levels of LH
cleft primary palate
abnormal tooth hard tissue morphology any structural anomaly of the hard portion of the tooth surrounding the pulp, including the dentin, enamel and the cementum on the root
pectus excavatum A defect of the chest wall characterized by a depression of the sternum, giving the chest (pectus) a caved-in (excavatum) appearance.
reduced hyperactivated sperm motility loss or reduction of the hyperactivated type of sperm mobility, impairing the ability of sperm to reach the site of fertilization and to penetrate the oocyte vestments; a block in hyperactivated motility may also impair the ability of a sperm to fertilize an oocyte in vitro
abnormal birth body size anomaly in average body size at birth compared to controls
monodactyly having only one toe or digit on each extremity
opacity of vitreous body the transparent gel filling the inner portion of the eyeball between the lens and retina becomes cloudy and impervious to light
hyperkeratosis Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
abnormal corpus callosum morphology any structural anomaly of a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres
abnormal hippocampus layer morphology any structural anomaly of the layers of the laminar structure of the hippocampus
thin cerebellar granule layer reduced thickness of the innermost cortical layer of the cerebellum that contains granule cells
melena The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., sotmach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
abnormal atrium endocardium morphology any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the atria
decreased fetal cardiomyocyte proliferation reduced ability of the differentiating cardiac muscle cell population to undergo expansion by cell division
abnormal glycogen level any anomaly in the concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle
embryonic lethality prior to tooth bud stage death prior to the appearance of tooth buds (Mus: E12-E12.5)
decreased paired-pulse facilitation reduction in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus
increased triiodothyronine level greater amount of a thyroid hormone that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland
brain inflammation
spleen fibrosis invasion of fibrous connective tissue into the spleen, often resulting from inflammation or injury
abnormal acute inflammation aberrant early and often transient reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response
abnormal circulating insulin level any anomaly in the blood concentration of the polypeptide hormone, secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids
abnormal basal ganglion morphology any structural anomaly of any of a group of nuclei associated with the ability to carry out willed movements, including the caudate, putamen, nucleus accumbens, globus pallidus, substantia nigra, and subthalamic nucleus
abnormal learning/memory/conditioning altered ability to receive, store, process or recall informational stimuli
decreased platelet serotonin level reduced amount in platelets of serotonin, a biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity
abnormal macrophage antigen presentation anomaly in the ability of macrophage phagocytic cells to process and present antigen to T lymphocytes
abnormal fetal atrioventricular canal morphology any structural anomaly of the common canal connecting the primordial atrium and ventricle during fetal development; the dorsal and ventral endocardial cushions develop in the walls of the common atrioventricular canal, grow toward each other and fuse, dividing the common atrioventricular canal into right and left atrioventricular canals and the atrioventricular septum
increased susceptibility to experimental autoimmune myasthenia gravis greater likelihood that an organism will develop disease symptoms similar to human myasthenia gravis upon induction with antigens to acetylcholine receptor subunits
increased circulating potassium level greater than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle
pulmonary hyperemia increased amount of blood flow into the lungs
abnormal locus ceruleus morphology any structural anomaly of a dense cluster of neurons within the dorsorostral pons; it is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic
absent alveolar lamellar bodies absence of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant
abnormal blood-brain barrier function anomaly in the function of the group of barriers and transport systems in the brain capillary endothelium that controls the entrance of substances into the brain extracellular space from the blood
abnormal melanogenesis anomaly in the biosynthetic pathway of melanin formation in cells
abnormal dermal melanocyte morphology any structural anomaly of the cells that produce pigment in the dermis
abnormal aortic sinus morphology any structural anomaly of the spaces betwen the superior aspect of each of the three cusps of the aortic valve and the dilated portion of the wall of the ascending aorta, immediately above each cusp; the three sinuses include the posterior (non-coronary sinus), and the right and left aortic sinuses (from which the left and right coronary arteries arise)
nephrosclerosis
abnormal brachiocephalic trunk morphology any structural anomaly of the short first aortic arch branch and divides into the right subclavian artery and the right common carotid artery
abnormal parental behavior altered behavior of animals that affects the ability of offspring to survive
thin lung-associated mesenchyme decreased thickness of the mesenchymal cell layer in the developing lung
delayed inner ear development slowed progression to structurally mature components of the labyrinth, including the semicircular canals, vestibule and cochlea
abnormal talus morphology any structural anomaly of the bone that articulates with the tibia and fibula
decreased prostaglandin level reduction in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation
complete preweaning lethality death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)
enlarged pituitary intermediate lobe increased size of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults
absent optic nerve absence of the second cranial nerve which is responsible for conveying visual information from the retina to the brain
abnormal inner cell mass proliferation any anomaly in the ability of the inner cell mass population to undergo rapid expansion by cell division
increased parathyroid adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the parathyroid gland, occurring in a specific population in a given time period
abnormal vitelline vasculature morphology any structural anomaly of the vascular network that supplies the yolk sac
abnormal putamen morphology any structural anomaly of the lens-shaped basal ganglion involved with control of voluntary movement in the brain
reduced thrombolysis reduced ability or inability to break up (lyse) blood clots that are restricting the blood flow
leptocytosis the presence of unusually thin or flattened red blood cells that when stained show a dark center and a peripheral ring of hemoglobin, separated by a pale unstained ring containing less hemoglobin, resulting in a bull's-eye appearance and resembling a 3D sombrero when viewed under EM; seen in certain anemias, thalassemias, hemoglobinopathies, obstructive jaundice, and the post-splenectomy state
nephrolithiasis Formation of stones in the KIDNEY.
abnormal lung interstitium morphology any structural anomaly of the connective tissue located between the respiratory (airway and alveolar) epithelium, the capillary endothelium and pleural mesothelium; it contains basement membrane composed of collagen, elastin, proteoglycans, and fibronectin; it functions in the mechanical behavior of the lung, and forms a barrier to regulate the flow of plasma constituents from the capillaries to the airway and alveolar spaces
prolonged estrus increase in the length of the estrous phase of the estrous cycle in female animals
increased macrophage cell number greater than the normal numbers of macrophages
absent pro-b cells absence of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs
abnormal iron level any anomaly in the concentrations of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins and is an essential component of enzymes such as catalase, peroxidase, and various cytochromes
abnormal trigeminal nerve morphology any structural anomaly of the chief sensory nerve of the face and motor nerve of the muscles of mastication; has three major divisions: ophthalmic, maxillary and mandibular
abnormal cochlear ihc efferent innervation pattern any changes in the morphology of the normally dense plexus of efferent terminals that contact radial fibers of the spiral ganglion below cochlear IHCs or of the sparser plexus of terminals positioned around IHC somata; normally, lateral olivocochlear neurons, which are found in and/or around the lateral superior olive, project mainly to the ipsilateral cochlea and terminate mostly on dendritic fibers below IHCs
dilated heart atrium the luminal space of one or both of the upper chambers of the heart is increased in volume or area, usually with an increase of contained fluid
renal tubular acidosis A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine.
enhanced conditioning behavior enhanced ability to change behavior in response to a reward or punishment each time an action is performed
decreased cardiac output reduction in the blood volume pumped by each ventricle per minute
periorbital edema Edema affecting the region situated around the orbit of the eye.
absent external male genitalia absence of the external masculine genital organs, including the penis and scrotum
abnormal parasympathetic postganglionic fiber morphology any structural anomaly of any or all of the cholinergic axonal fibers projecting from a parasympathetic ganglion to an effector organ
decreased cd4-positive, cd25-positive, alpha-beta regulatory t cell number a reduction in the number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release
persistence of medial edge epithelium during palatal shelf fusion palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam
decreased susceptibility to experimental autoimmune myasthenia gravis reduced likelihood that an organism will develop disease symptoms similar to human myasthenia gravis upon induction with antigens to acetylcholine receptor subunits
collapsed brain ventricles the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord are severely reduced in volume or area, possibly due to reduced or absent cerebrospinal fluid production; collapsed ventricles can be a sign of increased intracranial pressure and accumulation of water in the brain parenchyma
thin tail a tail with a smaller diameter than normal
heart right ventricle outflow tract stenosis
absent gonadotrophs absence of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH)
abnormal cerebral aqueduct morphology any structural anomaly of the channel in the mesencephalon that connects the third and fourth ventricles
abnormal postnatal subventricular zone morphology any structural anomaly of the mitotically active layer of cells surrounding the brain ventricles in the adult that consists of migrating neuroblasts, astrocytes and transitory amplifying progenitor cells
increased placenta apoptosis increase in the number of cells of the placenta undergoing programmed cell death
decreased kidney cell proliferation decrease in the expansion rate of any kidney cell population by cell division
embryonic lethality between implantation and somite formation death anytime between the point of implantation and somite formation (Mus: E4.5 to less than E8)
increased sebocyte number greater than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation
decreased urine aldosterone level a reduced amount of aldosterone in the urine compared to the normal state
abnormal tumor vascularization aberrant process of blood vessel formation and the subsequent remodeling process within and/or around tumors
decreased interleukin-9 secretion reduction in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells
abnormal pyloric gastric gland morphology any structural anomaly of the gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin
small popliteal lymph nodes reduced size of the lymph nodes which drain the legs
liver hyperplasia overdevelopment or increased size of the liver, usually due an increased number of cells
increased b wave amplitude increase in the size (height or maximum displacement) of the b wave as measured in the electroretinogram
increased cranium width having an increased side-to-side, or lateral distance of the cranium
abnormal ependyma motile cilium physiology any functional anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain and the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid around the central nervous system
abnormal mitotic spindle assembly checkpoint an anomaly in the process that normally prevents inaccurate segregation of chromosome by inhibiting cell-cycle progression in response to a signal generated by mitotic spindle damage or by chromosomes that have not attached to microtubules
total anomalous pulmonary venous connection, intracardiac the pulmonary veins connect directly to the right side of heart (eg, coronary sinus or directly to the right atrium) instead of the left atrium
absent inner hair cell stereocilia complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner hair cells
absent endolymphatic duct missing small membranous canal of the inner ear; connecting membranous labyrinth with the endolymphatic sac
abnormal vision inability or decreased ability to see
decreased lung endothelial cell proliferation reduced ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division
abnormal parotid gland morphology any structural anomaly of either of the largest of the major salivary glands situated below and in front of each ear
abnormal sternum morphology any structural anomaly of the long flat bone of the chest that articulates with clavicle and first seven rib pairs; from rostral to caudal positions, the sternum consists of three parts: manubrium, body, and xiphoid process
abnormal qt interval anomaly in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave
sternebra fusion appearance of one or more sternebrae as a single structure
abnormal frontal bone morphology any structural anomaly of the bone forming the forehead and roof of the eye orbit
acute pancreas inflammation early and often transient reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into the pancreas; initiated by injury, infection, or local immune response
dilated hair follicles the luminal space of the hair follicle is increased in volume or area, sometimes with an increase of contained fluid or sebum
erythroderma An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
abnormal circulating ketone body level aberrant amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acteone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus
increased urinary system tumor incidence greater than the expected number of tumors originating in the urinary system in a given population in a given time period
abnormal circulating alkaline phosphatase level any anomaly in the concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters; low levels are seen in cases of hypophosphatasia
abnormal strial marginal cell morphology any structural anomaly in the polarized columnar cells of epithelial origin which cover the lateral surface of the cochlear duct, secrete potassium ions and form a continuous sheet in contact with the endolymph; marginal cells form extensive interdigitations with the basal and intermediate cells in the normal adult stria
abnormal embryonic erythropoiesis anomaly in the development of primarily large, nucleated erythroblasts occurring in blood islands in the yolk sac, generally occurs from E7-E11 in the mouse and through 10 weeks in humans
abnormal ureteral orifice morphology any structural anomaly of the slit-like opening of either ureter into the bladder; normally, the two ureteral orifices are placed at the posterolateral angles of the urinary bladder trigone while the internal urethral orifice is placed at its anteroinferior angle (apex); wide gaping usually indicates vesicoureteral reflux
abnormal muscle fiber morphology any structural anomaly of the muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated
abnormal response to vitamins altered ability or inability to respond to or metabolize a group of organic substances that are required in trace amounts for the normal metabolic homeostasis of the body
biventricular, discordant atrioventricular connection
supernumerary teeth The presence of a supernumerary, i.e., extra, tooth or teeth.
decreased circulating glucagon level reduction in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes
abnormal male prostatic urethra morphology any structural anomaly of the widest and most dilatable part of the male urethra canal which runs almost vertically through the prostate from its base to its apex, lying nearer its anterior than its posterior surface; this portion of the urethral canal is spindle-shaped, being wider in the middle than at either extremity, and narrowest below, where it joins the membranous portion; it is lined by transitional epithelium and contains in its posterior wall, or floor, the orifices of the prostatic utricle, ejaculatory ducts, and prostatic ducts, collectively known as the seminal colliculus (aka verumontanum)
abnormal ito cell morphology any structural anomaly of the fat-storing cells that line the hepatic sinusoids
abnormal bone volume any anomaly in the amount of space occupied by bone tissue in the skeleton
abnormal double-negative t cell morphology any structural anomaly of the subset of T cells found in the thymus that express neither CD4 nor CD8
abnormal locomotor coordination reduced ability of an animal to maintain skillful and effective interaction of movements while engaging in behavioral locomotor activity
delayed embryo implantation any lag in the normal time course necessary for the attachment of the blastocyst to the endometrium
abnormal superior vena cava morphology any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart
skin lesions focal pathological and/or inflammatory changes characterized by alteration in the size, shape and organization of the cellular components of the skin
abnormal sensory neuron innervation pattern any changes in the placement, morphology or number of sensory nerve fibers to sensory termini or to spinal cord
papillary muscle hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in the papillary muscle
thin diaphragm muscle reduced thickness of the diaphragm muscle
increased right ventricle systolic pressure increase in the pressure in the right ventricle as the heart contracts and pumps blood into the arteries
decreased sebaceous gland number fewer than normal numbers of the holocrine glands that secrete sebum into the hair follicles, or in hairless areas into ducts
absent rosenthal canal absence of the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea
abnormal caudal vertebrae morphology any structural anomaly of the bony segments of the coccyx or tail
cerebellum vermis hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in the vermis
abnormal urine progesterone level any change in the urine amount of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy
hindlimb paralysis loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply
abnormal free fatty acids level any anomaly in the concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues
abnormal brain copper level an anomaly in the amount of copper present in brain tissue
abnormal lens fiber apoptosis anomaly in the number of lens fibers cells undergoing programmed cell death
decreased circulating creatine level reduction in the amount per unit of blood of an amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized
absent type i pneumocytes absence of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange
sebaceous gland atrophy acquired diminution of the size of the holocrine glands of the dermis that secrete sebum into the hair follicles, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
abnormal surfactant composition anomaly in the chemical constituents of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli
abnormal hair follicle infundibulum morphology any structural anomaly of the most proximal part of the hair follicle relative to the epidermis, extending from the sebaceous duct to the epidermal surface
fused metacarpal bones improper union of one or more of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges
abnormal urine deoxycorticosterone level any change in the urine amount of the steroid hormone secreted by the adrenal cortex, related to corticosterone and involved in regulating water and electrolyte balance
small visceral yolk sac reduced size of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo
respiratory system phenotype
absent hyoid bone lesser horns absence of shorter and more medial of the paired processes on either side of the hyoid bone
increased neutrophil cell number greater than normal number of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes
abnormal corpus epididymis morphology any structural anomaly of the body of the epididymis
decreased cardiac stroke volume reduction in the volume of blood pushed into the aorta with each beat of the heart
increased cardiac stroke volume increase in the volume of blood pushed into the aorta with each beat of the heart
abnormal thyroid cartilage morphology any structural anomaly of the largest of the laryngeal cartilages
micromelia The presence of abnormally small extremities.
abnormal renal sodium ion transport any anomaly in the directed movement of sodium ions (Na+) by the kidney
absent spleen
dermatitis A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.
increased urine creatinine level an increased amount of creatinine in the urine compared to the normal state
abnormal erythrocyte magnesium level anomaly in the amount in red blood cells of magnesium
increased pancreatic beta cell mass greater total physical bulk or volume of a pancreatic beta cell compared to the normal state
abnormal abdominal aorta morphology any structural anomaly of the part of the descending aorta that begins at the diaphragm and continues to the point of the common iliac arteries, and supplies oxygenated blood to all of the abdominal and pelvic organs and the legs
bradykinesia Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
increased small intestine adenocarcinoma incidence
decreased clearance of atrial thrombosis slower removal of a thrombus from the atria of the heart
absent zygomatic arch absence of the bony arch that extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone
absent sternum body absence of the middle and longest portion of the sternum, lying between the manubrium superiorly and the xiphoid process inferiorly; the body of the sternum (gladiolus) is considerably lengthier, narrower, and thinner than the manubrium, attaining its greatest breadth close to the lower end
impaired placental function
increased meningioma incidence greater than the expected number of encapsulated neoplasms derived from the meninges, in a specific population in a given time period
abnormal glomerular capsule space morphology any structural anomaly of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries
skeletal muscle hypertrophy The enlargement or overgrowth of all or part of an organ due to an increase in size (not length) of individual muscle fibers without cell division. In the case of skeletal muscle cells this happens due to the additional synthesis of sarcomeric proteins and assembly of myofibrils.
bowed radius A bending or abnormal curvature of the radius.
hyperchlorhydria increased hydrochloric acid content of the gastric secretions
abnormal hippocampus ca3 region morphology
hypoxemia An abnormally low level of blood oxygen.
decreased igm level An abnormally decreased level of immunoglobulin IgM in blood.
microstomia Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
abnormal eye electrophysiology any functional anomaly of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)
abnormal interventricular foramen morphology any structural anomaly of the paired channels that connect the lateral and third ventricles and allows cerebrospinal fluid produced in the lateral ventricles to flow into the third ventricle
increased circulating calcium level
abnormal hepatic duct morphology any structural anomaly of the two canals (left and right) that collect and drain bile from the left and right half of the liver from the biliary ductules and join external to the liver to form the common hepatic duct
abnormal digestive system morphology any structural anomaly of the system dedicated to the mechanical, chemical, and enzymatic processing of food
sebaceous gland hypoplasia underdevelopment and decreased size of the sebum secreting glands of the hair shaft, usually due to a decrease in the number of cells
abnormal plasma anion gap measurement of the interval between the sum of routinely measured cations minus the sum of the routinely measured anions in the blood; the anion gap = (Na+ + K+) - (Cl- + HCO3-) where Na- is sodium, K+ is potassium, Cl- is chloride, and HCO3- is bicarbonate
decreased circulating glucocorticoid level less than normal blood concentration of the corticosteroids regulating carbohydrate metabolism and exhibiting anti-inflammatory activity
enlarged spleen
abnormal consumption behavior altered ability or inability to eat or drink, or unusual choice or avoidance of foods or drink
uraturia passage of an increased amount of any salt or ester of uric acid (urate) in the urine
abnormal oval window morphology any structural anomaly of the oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes
decreased systemic arterial systolic blood pressure abnormal decrease in the pressure in the arteries as the heart contracts and pumps blood into the arteries
abnormal brain weight anomaly in the average weight of the brain
abnormal cochlear endolymph change in the normal production (volume) or ionic homeostasis of the fluid contained within the cochlea of the inner ear
increased macrophage cytokine production greater production of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels
abnormal rib development anomalous formation of the bones forming the bony wall of the chest
absent intersomitic vessels absence of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites
absent nasal placodes absence of the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epithelium of the nose
decreased circulating insulin level less than normal levels of insulin in the blood
midbrain atrophy acquired diminution of the size of the midbrain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
abnormal female meiosis i arrest any anomaly in the process in which oocytes stop at the diplotene stage of meiosis I and lie dormant, often for long periods of time
decreased unsaturated fatty acid level reduced concentration of unsaturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; unsaturated fatty acids commonly have a chain of 4 to 28 carbons which possess one or more double or triple bonds between carbon atoms
decreased lateral semicircular canal size small size of the lateral long bony tube of the labyrinth that is involved in the sense of balance
abnormal long bone morphology any structural anomaly of the bones that consist of a tubular shaft (diaphysis) and two ends that are wider than the shaft (epiphysis); long bones include the femora, tibiae, and fibulae, and the humeri, radii, and ulnae of the limbs; metacarpals and metatarsals of the autopods, the phalanges of the digits, and the clavicles
increased circulating ghrelin level greater than the normal blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that normally stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland
absent masseter muscle absence of the masticatory muscle of posterior cheek
absent odontoid process absence of the large protuberance that projects upward from the cervical axis, around which the cervical atlas rotates
abnormal myocardial fiber morphology any structural anomaly of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart
abnormal prothrombin time abnormal amount of time it takes plasma to clot after the addition of tissue factor e.g., platelet tissue factor, factor III, thromboplastin, CD142; measure of the quality of the extrinsic pathway of coagulation
decreased endocochlear potential reduction of the electrical potential difference between the endolymphatic and perilymphatic compartments of the cochlea
absent purkinje cell layer there is no evidence of the cell layer that lies just underneath the molecular layer of the cerebellar cortex, normally containing the neuronal cell bodies of the Purkinje cells arranged side by side in a single layer, and candelabrum interneurons vertically oriented between the Purkinje cells
decreased erythroblast number reduced number of the nucleated precursor of erythrocytes
abnormal stomach pyloric antrum morphology any structural anomaly of the area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells
abnormal limbic system morphology any structural anomaly of any of a collection of structures in the brain involved in emotion, motivation and emotional aspects of memory; these structures act together to control the endocrine system and the autonomic nervous system
abnormal muscle contractility aberrant ability of a muscle to shorten or to develop increased tension
paraparesis Weakness or partial paralysis in the lower limbs.
glutaricadicuria an accumulation of an intermediate of tryptophan catabolism in the urine
abnormal nasal mucosa morphology any structural anomaly of the mucous membrane that lines the nasal cavity
intervertebral disk degeneration
increased diameter of femur increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge
absent megakaryocytes absence of giant cells 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm
impaired exercise endurance impaired performance during controlled physical activity
cellular phenotype
abnormal reichert's membrane morphology any structural anomaly of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm; required for the maternofetal exchange of nutrients and is important for the postgastrulation development
small pterygoid bone reduced size of the bone region which corresponds to the inner plate of the pterygoid process of the mammalian skull
abnormal sublingual ganglion morphology any structural anomaly of the small parasympathetic ganglion found anterior to the submandibular gland that provides postsynaptic fibers to the sublingual gland
thin ribs Ribs with a reduced diameter.
striated fur hair or fur characterized by transverse, usually parallel, markings due to an anomaly in hair color, texture, or growth
disorganized suprabasal layer derangement of the pattern of the suprabasal layer of the skin
underdeveloped hair follicles arrest of or retarded differentiation of the epidermal invaginations from which the hair shaft develops
pulmonary valve regurgitation
decreased circulating interferon-gamma level reduction in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation
absent cerebral aqueduct absence of the channel in the mesencephalon that connects the third and fourth ventricles
decreased liver function Reduced ability of the liver to perform its functions.
abnormal vertebral artery morphology any structural anomaly of the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck
abnormal descending thoracic aorta morphology any structural anomaly of the part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest
abnormal visceral yolk sac morphology any structural anomaly of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo; the yolk that it contains is the site of embryonic hematopoiesis and vitelline circulation is involved in early embryonic circulation; it is the origin of the primordial germ cells
absent pp cells absence of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas
absent pubis absence of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis
defasiculated phrenic nerve misprojection or failure to bundle the motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues
abnormal lung alveolus development anomaly in the formation of the sacs for holding air in the lungs, which are formed by the terminal dilation of air passageways
abnormal mast cell differentiation atypical production of or inability to produce a cell that is found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation
absent palatal shelf absence of the palatal projections from the inner part of the maxillary processes that fuse to form the secondary palate
abnormal temporal bone morphology any structural anomaly of the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous
abnormal chorionic plate morphology any structural anomaly of the portion of the chorion from which chorionic villi develop that establish a connection with the endometrium, giving rise to the fetal portion of the mature placenta
abnormal trophoblast layer morphology any structural anomaly of the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta
abnormal epididymis epithelium morphology any structural anomaly of the layer of secretory cells which lines the epididymis
abnormal glucose absorption any anomaly in the ability of the small intestine to absorb glucose into the bloodstream
decreased spleen germinal center size reduced size of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs
abnormal mesangial matrix morphology any structural anomaly of the extracellular matrix secreted by intraglomerular mesangial cells
abnormal intestine physiology any functional anomaly of the digestive tube passing from the stomach to the anus
abnormal primordial germ cell proliferation anomaly in the ability of the primordial germ cell population to undergo rapid expansion by cell division
abnormal channel response anomalies in the electrophysiological recordings from ion channels
perineal fistula The presence of a fistula between the bowel and the perineum.
increased ly6c low monocyte number increase in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes
abnormal mastication any anomaly in the process of biting and mashing food with the teeth prior to swallowing
abnormal urine corticosterone level any change in the urine amount of the corticosteroid produced in the adrenal cortex that induces glycogen deposition and regulates sodium conservation and potassium secretion
increased percent body fat more fat, relative to controls, as a percentage of total body weight
abnormal area postrema morphology any structural anomaly of the small, elevated area in the lateral wall of the inferior recess of the fourth ventricle, involved in the control of cardiorespiratory physiology; in addition, the area postrema is the location of the chemotoxic trigger zone at which emesis (vomiting) is induced by various toxins in the blood stream and that affect the hypothalamus to induce taste aversion
abnormal extraembryonic tissue physiology any functional anomaly of the membranes involved with embryonic protection and nutrition
abnormal hepatocyte morphology any structural anomaly of the main structural specialized epithelial cells which normally organize into interconnected plates called lobules
short uterine horn length reduction or truncation of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet
delaminated cerebral cortex splitting of the layers of the grey cellular mantle covering the surface of the brain
abnormal dorsal-ventral axis patterning anomaly in the development or formation of the axis that runs from the front to the back surface of the body
abnormal t cell receptor alpha chain v-j recombination any anomaly in the process by which V and J gene segments of the T cell receptor alpha chain are recombined
abnormal sarcoplasmic reticulum morphology any structural anomaly in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere
absent atrioventricular cushions absence of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal
increased insulin sensitivity greater ability to clear glucose from the bloodstream when given insulin than normal; can result in hypoglycemia
abnormal cerebellum hemisphere lobule morphology any structural anomaly of the region of a cerebellar lobule that resides in either of the lateral sections of the cerebellum outside the vermis; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres; distinct species specific differences in hemisphere lobulation occurs among mammals, with greatest complexity in primates
decreased vertebrae number
increased lactotroph cell number greater number of an acidophilic cell of the anterior pituitary that produces prolactin
abnormal vasoconstriction anomaly in the narrowing of the blood vessels by smooth muscle contraction
abnormal interleukin-17 secretion anomaly in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors
abnormal facial nerve morphology any structural anomaly of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue; principal branches are the superficial opthalmic, buccal, palatine and hyomandibular
increased urine glycosaminoglycan level
abnormal amacrine cell number anomaly in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer
abnormal primitive streak formation anomaly in the establishment of the midline ridge of embryonic epiblast that later develops into mesoderm and endoderm
abnormal masseter muscle morphology any structural anomaly of the masticatory muscle of posterior cheek with origin from the inferior border and medial surface of the zygomatic arch, with insertion into the lateral surface of the ramus of the mandible, with nerve supply from the masseteric nerve, and whose action closes the jaw during chewing
abnormal genital tubercle morphology any structural anomaly of the embryonic anlage of the external genitalia, which emerges as paired swellings ventral to the cloacal membrane, is proposed to be derived from all three germ layers, and gives rise to the penis, clitoris, scrotum, labia, and foreskin; GT development is indistinguishable in male and female mouse embryos until approximately E16, when the urethral plate begins to be masculinized to form the penile urethra, marking the beginning of an androgen-dependent phase of sexual differentiation
interstitial cells of cajal hyperplasia increased number of the pacemaker cells of the gastrointestinal tract which mediate inputs from the enteric nervous system to smooth muscle cells and trigger gut contraction
abnormal neural crest morphology any structural anomaly of the specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types
sebaceous gland hyperplasia overdevelopment and increased size of the sebum secreting glands of the hair shaft, usually due to an increase in the number of cells
ulcerated paws inflammatory, often suppurating lesions on the paws; often become necrotic
decreased circulating interleukin-4 level reduction in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells
squamous metaplasia of seminal vesicles a benign non-cancerous transformation of the pseudostratified columnar epithelium lining the seminal vesicle(s) into stratified squamous epithelium; may occur in response to irritation or inflammation and involve keratinization
absent gallbladder A developmental defect in which the gallbladder fails to form.
abnormal chemoreceptor morphology any structural anomaly of any of the cells specialized to detect chemical substances and relay that information centrally in the nervous system
decreased susceptibility to experimental autoimmune uveoretinitis reduced likelihood that an organism will develop disease symptoms similar to human sight-threatening inflammatory eye diseases upon induction by peripheral immunization with one of several uveitogenic retinal proteins (or with peptides derived from them), or by the adoptive transfer of lymphocytes specific to these antigens
abnormal langerhans cell morphology any structural anomaly of a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus
decreased urine potassium level less than the normal amount of potassium in the urine
calcified aorta pathologic deposition of calcium salts in the aorta
hairless
abnormal stomach morphology any structural anomaly of the hollow, sac-like structure of the digestive canal between the esophagus and the small intestine that functions to emulsify food
premaxilla hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in the anterior and interior portion of the maxilla
decreased circulating total protein level
abnormal posture atypical intentionally or habitually assumed position of the limbs or carriage of the body
abnormal nephron morphology any structural anomaly of the filtering unit of the kidney that includes the renal corpuscle, proximal and distal convoluted tubules, and loop of Henle
absent clavicle missing one or both of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula
abnormal interleukin-12b secretion anomaly in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23
abnormal spermatogenesis Incomplete maturation or aberrant formation of the male gametes.
distended hair follicles follicles that have swollen or expanded from the skin
increased urine osmolality increase in the amount of ions in the urine compared to the normal state
persistent right dorsal aorta persistence of the right dorsal aorta after development; the right dorsal aorta normally regresses but when it persists, a double aortic arch develops; if the left dorsal aorta also regresses, a right aortic arch forms
abnormal hyaline cartilage morphology any structural anomaly of the bluish-white, glassy, translucent nonvascular, resilient, flexible connective tissue; found primarily in articular cartilage, costal cartilages, the nasal septum, the larynx, and the trachea
secondary sex reversal secondary sexual phenotype is not consistent with the chromosomal sex, i.e., internal and/or external genitalia are inconsistent with chromosomal sex
abnormal embryonic cloaca morphology any structural anomaly of the endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm
abnormal heartbeat anomaly in the appearance of regularly spaced contractions of the heart due to defects in the frequency, rate, pattern or extent of heart contraction
absent enamel absence of the hard outer coating of the exposed portion of the tooth
increased platelet aggregation increase in the ability of one platelet to one or more other platelets via adhesion molecules
increased tidal volume greater than the normal volume of air inspired or expired during each normal respiratory cycle
embryonic growth arrest the cessation of development beyond a particular stage
abnormal kidney interstitium morphology any structural anomaly of the kidney region located between the nephrons, ureteric epithelia (ureteric tips, trunk and collecting duct system) and renal vasculature, and composed of renal support cells, including fibroblasts and macrophages, and mesenchymal stroma or interstitial cells; the renal vasculature lies within the renal interstitium but is not a part of it; various conditions can lead to scarring (fibrosis) and congestion of this area, which can cause kidney dysfunction and failure
abnormal fourth pharyngeal arch artery morphology any structural anomaly of the vessels formed within the fourth pair of branchial arches in embryogenesis
abnormal neuropore morphology any structural anomaly of either the anterior or posterior temporary opening leading from the central canal of the embryonic neural tube to the exterior; the anterior and posterior neuropores connect the lumen of the neural tube with the amniotic cavity
decreased myocardial fiber number decreased number of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart
abnormal tarsal bone morphology any structural anomaly of any of the eight bones of the instep of the paw/foot: tibiale, talus, calcaneus, navicular, 3 cuneiform, and cuboid bones
abnormal glucagon secretion anomaly in the production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes
abnormal brown fat cell number anomaly in the number of fat cells from the thermogenic form of adipose tissue
decreased circulating bilirubin level reduced concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells
abnormal cerebellum vermis lobule i morphology
increased circulating ferritin level elevated concentration in the blood of ferritin, a ubiquitous intracellular protein that stores iron and releases it in a controlled fashion; some ferritin is also found in the blood and is measured in tests for overall iron levels, anemia and chronic diseases
lactation failure mammary glands do not secrete milk after parturition
abnormal foot pigmentation anomaly in the coloration of the foot due to changes in the amount, shape, or distribution of cells producing pigment
cardiomyopathy A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).|A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.
increased plasma membrane sphingolipid content abnormal accumulation of the phospolipids found especially in, but not limited to, the cell membrane of nerve tissue that yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis
disorganized cortical plate derangement of the patterned arrangement of the cortical plate
abnormal stomach fundus morphology any structural anomaly of the region of the stomach that lies above the cardiac notch that functions to store undigested food and to collect stomach gases produced by chemical digestion
left-sided isomerism anomaly in the asymmetry of the visceral paired organs (e.g. lungs) such that organs on the left and right side have the morphology normally seen on the left side of the body; this may also be associated with the presence of multiple spleens
abnormal central tendon morphology any structural anomaly of the three-lobed cloverleaf-shaped aponeurosis situated at the center of the diaphragm; the central tendon is fused with the fibrous pericardium that provides attachment for the muscle fibers
abnormal short term object recognition memory anomaly in the short-term memory for objects is established during the first few minutes after training
decreased zigzag hair amount reduced number of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla
insulin resistance diminished effectiveness of insulin in lowering plasma glucose levels
abnormal eye distance/ position abnormal placement of the eyes in relation to each other or in relation to other craniofacial structures
abnormal b-1 b cell number deviation from the normal count of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity
decreased cerebral infarction size decreased size of necrotic area of the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply
abnormal chiasmata formation atypical contact between nonsister chromatids of homologous chromosomes during meiosis I, precluding formation of the expected number of cross-shaped configurations representing recombination events
hairless tail the tail is devoid of hair
absent linear vestibular evoked potential absence of the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head)
midline facial cleft A congenital malformation with a cleft (gap or opening) in the midline of the face.
thick embryonic epiblast increased thickness of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion
abnormal placing response altered ability to stretch and lift the forelimbs and head to grab a close edge
encephalomeningocele
mullerian duct degeneration a retrogressive impairment of function or destruction of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina
fused lips Lack of separation of the upper and lower lips.
irregularly shaped pupil shape defects in the aperture of the iris through which light rays enter the eye, usually circular
abnormal small intestinal crypt cell proliferation anomaly in the ability of the cells that make up the tubular intestinal glands found in the mucosal membranes of the small intestine to undergo expansion by cell division
abnormal igg2c level deviation from the normal levels of immunoglobulin class G2c level
abnormal dendritic cell physiology any functional anomaly of the immunocompetent cells of the lymphoid and hemopoietic systems and skin, which function to process antigens and present them to T cells, thus stimulating cellular immunity
decreased threshold for auditory brainstem response reduction in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system
abnormal aortic valve cusp morphology any structural anomaly of the three fibrous triangular components and associated flap of the aortic valve
increased circulating erythropoietin level greater blood concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine
increased length of long bones greater end-to-end length of the several elongated bones of the extremities
absent facial nerve absence of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue
abnormal extraocular muscle morphology any structural anomaly of any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi
increased sensitivity to induced cell death decrease in the exposure level to an agent that is required to induce cessation of function at the cellular level
xiphoid process foramen the appearance of a hole or holes in the caudal tip of the sternum
absent barrels in primary somatosensory cortex missing pattern of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae
fusion of atlas and occipital bones union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure
elevated level of mitotic sister chromatid exchange increased number of crossovers between sister chromatids during mitosis resulting in increased numbers of reciprocal exchanges of DNA between the two chromosomes; normally crossover exchanges are supressed during mitosis and only occur in meiosis
abnormal ocular fundus morphology any structural anomaly of the posterior concave interior of the eye, consisting of the retina, the choroid, the posterior segment of the sclera, the optic disk, and blood vessels, visible by an ophthalmoscope
increased neuronal stem cell self-renewal an increased rate in the process by which stem cells divide and proliferate to make more stem cells, perpetuating an increase in the stem cell pool; self-renewal is division with maintenance of the undifferentiated state
abnormal hair follicle outer root sheath morphology any structural anomaly of the outermost layer of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb
absent upper incisors absence of the upper pair of long teeth that are the most anterior and prominent in the jaw
purkinje cell degeneration a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex
decreased circulating interleukin-5 level reduction in the amount in the blood of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells
abnormal sleep pattern deviation from the normal wake/sleep cycle
double aortic arch A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).
enhanced passive avoidance behavior increase in the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously
abnormal uterine cervix squamous epithelium morphology any structural anomaly of the scaly epithelial layer of the cervix
small second pharyngeal arch reduced size of the second branchial arch
enlarged adrenocortical cell nuclei nuclei of the cells of the cortex of the adrenal gland are larger than normal
enlarged lateral ventricles
abnormal plasma cell morphology any structural anomaly of a terminally differentiated, post-mitotic, short-lived cell of the B cell lineage devoted to producing large amounts of immunoglobulin
abnormal rhombic lip morphology any structural anomaly of the posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system
abnormal osteoclast cell number deviation from the average number of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue
abnormal orbit size deviation from the normal size of the orbit
abnormal digit development anomaly in the formation of the digits
abnormal outer hair cell kinocilium morphology any structural anomaly of the nonmotile primary cilium that is found at the apical surface of outer hair cells
decreased channel response intensity reduction in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded from ion channels
retinal pigment epithelium hyperplasia increased numbers of cells in the epithelial layer of the retina composed of cells containing pigment granules
increased endometrial gland number greater than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus
absent craniofacial bones missing skeletal elements comprising the cranium and face
wrinkled skin The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.
ventral rotation of lens a circular shift toward the ventral pole in the position of the equator of the lens relative to the optic nerve exit point
increased circulating angiotensinogen level greater than normal concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I
abnormal renal fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the kidney
abnormal t cell physiology any functional anomaly of lymphocytes that are responsible for cell-mediated immunity and immune system regulation
decreased level of surface class i molecules reduced expression of major histocompatibility complex class I molecules at the cell surface
increased transforming growth factor level greater concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function
decreased circulating prothrombin level reduction in the blood level of an inactive plasma serine protease precursor produced in the liver in the presence of vitamin K which is proteolytically cleaved into active thrombin by the action of various components (as thromboplastin) of the coagulation cascade
abnormal hemangioblast morphology any structural anomaly of the pluripotent precursor cell in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands
bowed femur Bowing (abnormal curvature) of the femur.
decreased synaptic depression decrease in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation
abnormal retina morphology any structural anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors
increased lipoma incidence greater than the expected number of a benign neoplasia derived from lipoblasts or lipocytes of white or brown fat, occurring in a specific population in a given time period
increased wet-to-dry lung weight ratio an increase in the ratio of wet lung weight (measured immediately after lung excision) to oven-dried lung weight relative to control samples; may reflect an inability to expel remaining amniotic fluid out of the lungs during or shortly after birth, or increased fluid accumulation (pulmonary edema) and/or tissue damage after lung injury
long gestation period increase in the average duration of a pregnancy
abnormal testes secretion anomaly in the production and/or release of hormones from testicular tissue
biliary cyst
decreased susceptibility to bacterial infection induced morbidity/mortality reduced likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria
increased glioma incidence greater than the expected number of tumors that arise from glial cells, non-neuronal cells of the nervous tissue, occurring in a specific population in a given time period
complete embryonic lethality before implantation death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5)
abnormal ovary development abnormal morphogenesis of the ovarian follicle for the production of female germ cells or the endocrine cells for the production of estrogen and progesterone
increased immature b cell number greater number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity
abnormal pituitary hormone level aberration in the blood or tissue concentration of any of the hormones secreted by the pituitary
abnormal kidney blood vessel morphology any structural anomaly of the network of tubes that carries blood through the organ of excretion
abnormal vagina size anomaly in the size of the female reproductive canal located between the uterus and the vulva
abnormal reproductive system physiology any functional anomaly of the organs associated with producing offspring
decreased brown adipose tissue amount reduced quantity of the thermogenic form of adipose tissue that is composed of brown adipocytes
impaired eosinophil chemotaxis defect in the movement of eosinophils guided by a specific chemical concentration gradient
abnormal mammary gland development aberration in the differentiation of the mammary gland during early embryogenesis or during sexual maturity
decreased circulating ceruloplasmin level decreased amount in the blood of any of ceruloplasmin, a ferroxidase enzyme
double outlet right ventricle OMIM mapping confirmed by DO. [SN].
ocular distichiasis presence of a double row of eyelashes on an eyelid, one or both of which are turned in against the eyeball
abnormal external nares morphology any structural anomaly of the anterior opening to the nasal cavity
decreased circulating mineralocorticoid level less than normal blood concentration of corticosteroids that influence water and electrolyte metabolism and balance
abnormal vasodilation anomaly in the physiological widening of the lumen of the blood vessels by relaxing the underlying vascular smooth muscle
small lung saccule reduced size of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth
abnormal circulating apolipoprotein level anomaly in the amount in the blood of a protein that is frequently a component of a lipoprotein complex
decreased mitochondria number fewer than normal number of the cellular organelles responsible for energy production
abnormal retinal cone cell morphology any structural anomaly of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment; cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision
abnormal splanchnic mesoderm morphology any structural abnormality of the inner layer of lateral plate mesoderm, located above (dorsally) the endoderm, which forms the circulatory system and future gut wall
abnormal interventricular septum membranous part morphology any structural anomaly of the membranous portion of the wall between the two lower chambers of the heart
abnormal vitamin level any anomaly in the concentration of any of the organic substances found in food that are necessary in trace amounts for normal metabolic function
increased late pro-b cell number greater number of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain
increased total fat pad weight greater than average weight of the fat pads
abnormal stationary movement altered ability or inability to change body posture or shift a body part
abnormal forelimb stylopod morphology any structural anomaly of the proximal element of the forelimb including the humerus
corneal opacity A reduction of corneal clarity.
abnormal medial ganglionic eminence morphology any structural anomaly of a distinct elevation of a transient proliferating cell mass of the fetal subventricular zone; this mass contributes most of its cells to the neocortex; however, hippocampal neurons, thalamus, septum and olfactory bulb neurons are also partly derived from the MGE
abnormal myeloid dendritic cell number anomaly in the number of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses
impaired embryo implantation impaired ability of the blastocyst and/or the uterine environment to successfully synchronize allowing attachment of the blastocyst to the epithelial lining of the uterus, its penetration through the epithelium and any subsequent physiological interactions necessary to sustain embryonic development
increased incidence of induced tumors higher than normal frequency of tumor incidence induced by a carcinogen, mutagen or virus
abnormal cardinal vein morphology any structural anomaly of any of the four veins in the developing vertebrate embryo which run along each side of the vertebral column
cervical vertebrae degeneration retrogressive pathologic change of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull
abnormal cerebellum morphology
dilated bile duct the luminal space of the bile ducts is increased in volume or area, usually with an increase in contained fluid or bile
small ears Underdevelopment of the external ear.
abnormal sympathetic neuron morphology any structural anomaly of any of the neurons of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations
partial neonatal lethality the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)
increased right ventricle peak pressure increase in the difference between right ventricular systolic and diastolic pressures
atrium myocardium hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the atrial part of the heart myocardium
pulmonary hypoplasia
abnormal papillary duct morphology any structural anomaly of the largest straight excretory ducts in the kidney medulla and papillae that are a continuation of the collecting tubules, and that open into the area cribosa
decreased prolactin level less than expected concentration of the hormone that stimulates milk secretion
decreased tubuloglomerular feedback response attenuation of the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa
abnormal cerebellar granule layer morphology any structural anomaly of the innermost cortical layer of the cerebellum; contains densely packed small neurons, mostly granule cells with some Golgi cells are found at the outer border
decreased blood uric acid level
intracranial aneurysm
decreased left ventricle developed pressure decrease in the difference between left ventricular systolic and diastolic pressures
small caput epididymis decrease in the average size of the head of the epididymis
abnormal frontonasal suture morphology any structural anomaly of the dense, fibrous connective tissue joint between the frontal and nasal bones
decreased liver glycogen level less than the normal concentration of a readily converted carbohydrate reserve in liver
abnormal tumor necrosis factor secretion anomaly in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium
abnormal milk composition anomaly in the protein or lipid content or the appearance of milk
decreased circulating interleukin-13 level reduction in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses
decreased response of heart to induced stress decrease in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding
abnormal heart right ventricle pressure any anomaly in the pressure within the right cardiac ventricle
abnormal tracheal cartilage morphology any structural anomaly of the cartilaginous structures that support the trachea
absent epidermis stratum granulosum absence of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis
loss of glutamate neurons loss of the neurons that utilize glutamate as a neurotransmitter, commonly due to an apoptotic event
abnormal urination anomaly in the process in which parasympathetic nerves stimulate the bladder wall muscle to contract resulting in the expulsion of urine from the body
thick apical ectodermal ridge increase in the thickness of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme
abnormal thymus cortex morphology any structural anomaly of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes
increased frequency of paradoxical sleep increased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity
increased liver weight a greater than average weight of the bile-secreting exocrine gland
decreased hematopoietic stem cell proliferation reduction in the expansion rate of a hematopoietic stem cell population by cell division
absent anterior lingual gland absence of the small glands located near the apex of the tongue on either side of the frenulum
decreased cellular sensitivity to ultraviolet irradiation reduced incidence of cell death following exposure to ultraviolet irradiation
abnormal clitoral bone morphology any structural anomaly of the ossified region of endochondral and membranous bone located in the clitoris of most mammals except humans;it is homologous to the penile bone (aka as baculum, penis bone or os penis) in male mammals
absent pharyngeal arches missing the transient structures of the embryo that develop into regions of the head, neck and ears
abnormal sternebra number deviation from the average number of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum
increased cd4-positive, alpha-beta memory t cell number increased number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high
abnormal white fat cell morphology any structural anomaly of fat cells with light coloration and few mitochondria; these contain a scant ring of cytoplasm surrounding a single large lipid droplet or vacuole
abnormal vertebral articular process morphology any structural anomaly of the bilateral flat projections that arise from the junctions of the pedicles and laminae
liver failure
splayed ribs any deviation from the normal curvature of the ribs such that the ribs are turned outward
partial embryonic lethality between implantation and placentation the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9)
increased cochlear outer hair cell number increased number (or more than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti
glomerulus hemorrhage bleeding in the renal glomerulus
abnormal lymph node medullary sinus morphology any structural anomaly of the channels in the lymph node medulla that separate the medullary cords and are crossed by a reticulum of cells and fibers and bounded by littoral cells; lymph flows through the medullary sinus from the cortical sinuses and into the efferent lymphatic vessels
abnormal vestibular saccular macula morphology any structural anomaly of the oval neuroepithelial sensory receptor in the anterior wall of the saccule; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies
abnormal mouth morphology any structural anomaly of the oral cavity
abnormal erythrocyte clearance any anomaly in the selective elimination of aging erythrocytes from the body by autoregulatory mechanisms, often expressed as half-life
short tibia Underdevelopment (reduced size) of the tibia.
decreased macrophage nitric oxide production reduced production of macrophage-derived nitric oxide due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels
decreased circulating interleukin-10 level reduction in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation
abnormal optic nerve morphology
early parturition the process of labor and delivery in female animals occurs earlier in gestation than expected
decreased t-helper 2 cell number reduction in the number of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy
disorganized stomach mucosa derangement of the pattern of the mucous layer of the stomach wall
atherosclerotic lesions thickening and loss of elasticity of arterial walls, involving plaque-like lipid deposition and thickening of intimal layers within arteries; progresses to narrowing of arterial lumens with fibrosis and calcification resulting in restriction of blood flow
abnormal intestinal smooth muscle morphology any structural anomaly of the nonstriated, involuntary muscle tissue lining the intestine
abnormal petrosal ganglion morphology any structural anomaly of the larger, lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve
kidney hemorrhage bleeding in the organ of excretion
reduced male mating frequency males do not as frequently initiate sexual behavior (as scored by the presence of copulation plugs in rodents, not due to infertility)
decreased pancreatic delta cell number reduced number of the cells found in the pancreas that secrete somatostatin
abnormal gonial bone morphology any structural anomaly of the investing bone that lies on the surface of the malleus
abnormal pallium development anomaly in the progression of the formation of the roof region of the telencephalon
abnormal thymus lobule morphology any structural anomaly of the basic structural unit of the thymus
absent somites absence of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo
abnormal telencephalon morphology any structural anomaly of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures, and is considered to be the seat of conscious mental processes; it develops from the anterior-most embryological division of the brain that develops from the prosencephalon
decreased molar number reduction in the number of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface
absent placenta hemotrichorial membrane absence of the three trophoblast cell layers found in rodent placentas between fetal blood vessels and maternal blood sinuses
increased interleukin-9 secretion increase in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells
increased circulating glutamate dehydrogenase level increased concentration in the blood of the enzymes which catalyze the reaction of L-glutamate, water and NAD+, producing alpha-ketoglutarate, ammonia, and NADH
abnormal dentin morphology
failure of head fold formation inability to form the crescent-shaped, ventrally located fold of the embryonic disc at the future cephalic end of the developing embryo; the head fold constitutes the first body fold, and initiates brain, foregut and heart development
abnormal cerebellum lateral hemisphere morphology any structural anomaly of the most lateral paired regions of the cerebellum; the lateral zone receives input from the parietal cortex via pontocerebellar mossy fibers regarding the location and position of the body and integrates input signals with indications of muscle activity
decreased urine corticosterone level a reduced amount of corticosterone in the urine compared to the normal state
decreased chemical nociceptive threshold a lower than average concentration at which chemically induced pain sensation is first detectable
duodenum polyps
decreased heart left ventricle weight less than average weight of the left ventricle compared to the average
hematoma
absent vas deferens Aplasia (congenital absence) of the vas deferens.
abnormal leukopoiesis any anomaly in the process of generating white blood cells (leukocytes) from the pluripotent hematopoietic stem cells of the bone marrow; two significant pathways generate various types of leukocytes: myelopoiesis, in which leukocytes in the blood are derived from myeloid stem cells, and lymphopoiesis, in which leukocytes of the lymphatic system (lymphocytes) are generated from lymphoid stem cells
enlarged sperm head increased size of the head segment of the sperm cell
renal tubule atrophy acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
abnormal myoblast differentiation anomaly in the process in which a relatively unspecialized cell acquires specialized features of a myoblast, a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers
female preputial gland hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of any of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents
kidney vascular congestion obstruction of the normal flux of blood within the blood vessel network of the organ of secretion
abnormal long bone epiphyseal plate proliferative zone any anomaly of the germinal layer of the epiphyseal plate where cells are actively dividing as well as producing extracellular matrix
abnormal intestine regeneration deviation from the normal ability of the intestine to regenerate healthy tissue following injury or disease
decreased circulating hdl cholesterol level reduced amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion
increased dn1 thymic pro-t cell number increased number of pro-T cells that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative
small caudal vertebrae reduced size of the bony segments of the coccyx or tail
respiratory failure A lung disease characterized by inadequate gas exchange by the respiratory system.
abnormal branching involved in lung morphogenesis anomaly in the process in which the branched structure of the respiratory airway tree is generated and organized
absent pre-b cells absence of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface
increased epididymis weight increase in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens
folliculitis
abnormal paradoxical sleep pattern any anomaly in the frequency or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity
abnormal cochlea morphology any structural anomaly of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound
abnormal nerve conduction
dilated pancreatic duct an increase in volume of the luminal space of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum
abnormal superior cervical ganglion morphology any structural anomaly of the group of neurons that is the largest of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck
abnormal cerebellar golgi cell morphology any structural anomaly of the population of large inhibitory GABAergic interneurons found in the cerebellar internal granule layer which act by altering the mossy fibre - granule cell synapse; the main synapse made by these cells is a synapse onto the mossy fibre - granule cell excitatory synapse in a glomerulus, which is composed of the mossy fibre terminal, granule cell dendrites, and golgi terminal and is enclosed by a glial coat
decreased tumor growth/size less than expected development of tumorous growth when compared to controls
abnormal facial motor nucleus morphology any structural anomaly of the group of motor neurons residing in the pons that innervate the muscles of facial expression
abnormal trabecular bone volume any anomaly in the amount of space occupied by trabecular bone tissue in the skeleton
aorta stenosis
bronchiectasis A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.
abnormal heart atrium morphology any structural anomaly of one or both of the two upper chambers of the heart, to which the blood returns from the circulation
microgliosis a proliferation or spread of microglia in the area of a degenerative lesion or damaged tissue
decreased lactate dehydrogenase level reduced level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate
decreased circulating testosterone level reduction in the blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females
abnormal heart looping any anomaly in the characteristic morphogenetic movements where the primitive heart tube loops asymmetrically during early development; this looping brings the primitive heart chambers into alignment preceding their future integration
renal tubular necrosis morphological changes resulting from pathological death of renal tubular tissue; usually due to irreversible damage
abnormal harderian gland physiology any functional anomaly of the retroocular sebaceous gland found within the orbit of mammals that possess a nictitating membrane (third eyelid); the chief products of the gland vary between different groups of vertebrates, and epithelial cells possess granules or vacuoles whose contents may be mucous, serous or lipid; in rodents, the Harderian gland is especially large and secretes lipids (by a merocrine mechanism), melatonin and porphyrins; ascribed functions include a role in lubrication and protection for the eyeball and nictitating membrane (by lipids), photoprotection (by porphyrin), photoreception (by regulation of the incidence of light on the retina), and thermoregulation (in some rodents)
asymmetric rib attachment loss of bilateral symmetry in rib attachments to the vertebral column or to the sternum
abnormal heart ventricle outflow tract morphology any structural anomaly of the superior portion of the ventricles of the heart through which blood flows into the arteries
absent bulbourethral gland absence of any of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; they secrete a clear fluid known as pre-ejaculate (Cowper's fluid), and are homologous to the greater vestibular (Bartholin's) glands in the female
abnormal retinal progenitor cell morphology any structural anomaly of the cells that give rise to the various cells of the retina
increased fibroma incidence greater than the expected number of a benign tumor of fibrous or fully developed connective tissue, in a specific population in a given time period
absent middle ear ossicles Absence of the middle ear ossicles, malleus, incus, and stapes.
increased uterus leiomyoma incidence greater than the expected number of a benign tumor derived from smooth (nonstriated) muscle of the uterus, occurring in a specific population in a given time period
abnormal spermiogenesis anomaly in the process by which a spermatid transforms into a functional spermatozoon
abnormal neuron physiology any functional anomaly of the cells of the nervous system that receive, conduct, and transmit impulses
abnormal cervical atlas morphology any structural anomaly of the first (topmost, C1) cervical vertebra which supports the globe of the head
abnormal parietal endoderm morphology any structural anomaly of the primitive endoderm-derived tissue that lines the luminal surface of the mural trophectoderm
calcified tendon pathologic deposition of calcium salts in the tendons
altered susceptibility to atherosclerosis a change in the likelihood that an organism will develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries
decreased defecation amount decrease in the amount of discharge of feces from the body
decreased glyceraldehyde-3-phosphate dehydrogenase (nad+) (phosphorylating) activity reduced ability to catalyze the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD+ = 3-phospho-D-glyceroyl phosphate + NADH + H+
abnormal peritubular capillary endothelium morphology any structural anomaly of the thin sheet of endothelial cells along the basal lamina of renal tubular cells characterized by their attenuated shape and numerous regularly-spaced transcellular pores (aka fenestrae or fenestrations); the fenestrae of peritubular capillaries differ from the fenestrae of glomerular capillaries in that they are much smaller and possess a small overlying diaphragm
oocyte degeneration a retrogressive impairment of function or destruction of the female germ cells
absent male inguinal canal absence of the passage in the lower abdominal wall through which the spermatic cord, nerves and vessels normally pass from the pelvic cavity to the scrotum
abnormal hindlimb morphology any structural anomaly of the projecting caudal-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the legs or back limbs in mammalian species
abnormal sensory ganglion morphology any structural anomaly of the clusters of neurons in the somatic peripheral nervous system which contain the cell bodies of sensory nerve axons, interneurons and non-neuronal supporting cells
absent uterine nk cells absence of a natural killer cell subset that is found in the decidua of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy
absent gonial bone absence of the investing bone that normally lies on the surface of the malleus
decreased splenocyte proliferation reduction in the expansion rate of a splenocyte cell population by cell division
abnormal secondary muscle spindle morphology any structural anomaly of the sensory organ in muscle; involved in the stretch reflex and not sensitive to stretch velocity
abnormal salivary gland morphology any structural anomaly of the saliva-secreting glands of the oral cavity
abnormal spiral limbus morphology any structural anomaly in the border of the spiral lamina, i.e. the thickened periosteum covering the upper plate of the bony spiral lamina of the cochlea
abnormal b-1b b cell morphology any structural anomaly of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell
abnormal thymus subcapsular epithelium morphology any structural anomaly of the epithelial cells lining the capsule and trabeculae of the thymus
absent photoreceptor outer segment absence of the photoreceptor region that is rich in the visual pigment rhodopsin
decreased pituitary hormone level less than the expected amount of any of the pituitary hormones in the blood or tissues
decreased metatarsal bone number reduced number of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges
decreased autoantibody level reduced level of antibodies to self-antigens present in the sera
abnormal nk cell morphology
abnormal lymph node number deviation from the normal number of lymph nodes
abnormal thyroid-stimulating hormone level anomalous concentration of the hormone that stimulates the growth and function of the thyroid gland
short radius Underdevelopment of the radius.
abnormal kidney capillary morphology any structural anomaly of the small branching blood vessels in the kidney that form a network between the arterioles and venules, where the exchange of water, oxygen, carbon dioxide, and other nutrient and waste chemical substances occurs between the blood and the surrounding tissues
reduced linear vestibular evoked potential reduction of the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head)
abnormal cerebellar peduncle morphology any structural anomaly of any of the three large paired bundles of nerve fibers that connect the cerebellum to the brain stem
achlorhydria absence of hydrochloric acid in the gastric secretions
abnormal respiratory sounds any anomaly in the noises heard over any part of the respiratory tract
increased omental fat pad weight greater than average weight of the encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon
increased liver glycogen level greater than the normal concentration of a readily converted carbohydrate reserve in liver
increased plasma cell number greater number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin
small submandibular ganglion reduced size of the small parasympathetic ganglion of the lingual nerve
pharyngeal arch artery hypoplasia underdevelopment or reduced size of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels
abnormal l3 dorsal root ganglion morphology any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the third lumbar vertebra
abnormal head fold morphology any structural anomaly of the crescent-shaped, ventrally located fold of the embryonic disc at the future cephalic end of the developing embryo; it constitutes the first body fold, and initiates brain, foregut and heart development
abnormal hemoglobin concentration distribution width anomaly in the standard deviation of the distribution of erythrocytes by their cellular (individual) hemoglobin concentrations
fused somites a defect in which there is an appearance of a single enlarged somite resulting from partial or complete fusion of the two somitic anlage
abnormal cochlear viii nucleus morphology any structural anomaly of two paired brainstem nuclei, the dorsal cochlear nucleus and the ventral cochlear nucleus, that lie dorsal and ventral, respectively, to the inferior cerebellar peduncle at the rostral pole of the medulla; the cochlear nuclei receive input from the cochlear nerve and send projections to the inferior colliculus, the medial geniculate, and other forebrain structures
cystolithiasis caliculi, or a solid concretion or crystal aggregation, found in the urinary bladder; often embedded in a glycoprotein matrix which may also contain some nonglycoproteins when associated with infection
impaired branching involved in ureteric bud morphogenesis partial or complete failure of the ureteric bud to repeatedly divide into lobules during development of the kidney
abnormal postnatal growth/weight/body size increased or decreased average body size, weight or growth characteristic abnormalities manifesting after birth
abnormal spongiotrophoblast size anomaly in the size of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors
abnormal klrg1-positive nk cell number deviation in the number of KLRG1 positive NK cells that represent a maturation subset of NK cells and is linked to NK cell proliferation
ocular hypotension
abnormal cardiac mesenchyme morphology any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures
interrupted aorta complete discontinuation or blockage in the aorta
abnormal glycogen catabolism inability to breakdown glycogen; or reduced or increased rate of glycogen breakdown
decreased susceptibility to atherosclerosis less likely than normal to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries
abnormal skeletal muscle morphology any structural anomaly of any of the striated muscle fibers connected at either or both extremities with the bony framework of the body
increased urine microalbumin level
abnormal lysosome physiology ability of lysosomes to produce enzymes necessary for digestion of exogenous material is impaired
increased vascular endothelial cell number greater than normal number of cells lining the vasculature
abnormal long term object recognition memory anomaly in long-term memory for objects that is consolidated over hours and days after training
impaired lectin complement pathway abnormal function of the plasma protein cascade triggered by binding of lectin(s) to carbohydrate groups found on pathogen cell surfaces
abnormal arytenoid cartilage morphology any structural anomaly of the paired triangular cartilages located postlaterally at the level of the thyroid cartilage
increased hair follicle apoptosis greater than expected levels of programmed cell death of cells in the epidermis from which the hair shaft develops
abnormal pharynx morphology any structural anomaly in the passage between the mouth and the posterior nares and the larynx and esophagus
abnormal penile erection altered ability to achieve a rigid state of the penis obtained in the condition in which the erectile tissue is filled with blood
arrest of tooth development failure of differentiation of the teeth
decreased dn1 thymic pro-t cell number reduced number of pro-T cells that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative
asymmetric snout presence of a snout that lacks mirrored identity on either side of the median plane
herniated diaphragm
hair follicle degeneration a retrogressive impairment of function or destruction of the hair follicle
prolonged diestrus increase in the length of the diestrous phase of the estrous cycle in female animals
increased allantois apoptosis increase in the number of cells of the allantois undergoing programmed cell death
abnormal erythrocyte osmotic lysis increase or decrease in the ability of RBCs to withstand changes in osmolarity
absent palatine bone horizontal plate missing bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate
absent auchene hairs absence of truncal hairs having a single constriction and bend about midway along the hair shaft, and contain two or more air cells in the medulla
abnormal awl hair morphology any structural anomaly of truncal hairs that are straight, but are shorter than guard hairs, and contain two or more air cells in the medulla
photoreceptor inner segment degeneration retrogressive pathologic change in the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region
abnormal superior glossopharyngeal ganglion morphology any structural anomaly of the upper, smaller ganglion of the glossopharyngeal nerve located at the jugular foramen
abnormal cardiac output anomaly in the blood volume pumped by each ventricle per minute (stroke volume x heart rate)
epidermal desquamation shedding of the cuticle of the epidermis in scales or shreds
abnormal primordial germ cell migration any anomaly in the orderly movement of a primordial germ cell, a cell specialized to produce haploid gametes, from one site to another during development
abnormal spermatogonia proliferation anomaly in the proliferation of the spermatogonial stem cells either due to abnormal mitosis or apoptosis
decreased pp cell number reduced number of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas
abnormal circulating interleukin-16 level anomaly in the amount in the blood of a cytokine produced by activated T-cells that stimulates the migration of CD4-positive lymphocytes and monocytes
increased sarcoma incidence greater than the expected number of a connective tissue neoplasm associated with the proliferation of embryonically-derived mesodermal cells, occurring in a specific population in a given time period
abnormal interleukin-3 secretion anomaly in the production or release of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells
absent cardiac jelly absence of the gelatinous noncellular material between the endothelial lining and the myocardial layer of the developing heart
increased corneal stroma thickness increased width of the lamellated connective tissue layer of the cornea
abnormal nonassociative learning anomaly in the process of a simple form of learning whereby the repeated presence of a stimulus leads to a change in the probability or strength of the response to that stimulus; there is no association of one type of stimulus with another, rather it is a generalized response to the environment
abnormal reproductive system morphology A structural or developmental anomaly of any of the tissues involved in the genital system.
decreased liver cholesterol level less than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues
absent fibroblast proliferation failure of a fibroblast cell population to undergo expansion by cell division
abnormal descending aorta morphology any structural anomaly of the part of the aorta extending from the arch of aorta to the point where it divides into the common iliac arteries
abnormal adipose tissue amount more or less than the normal total amount of connective tissue composed of fat cells
abnormal iris pigment epithelium anomaly in the epithelial layer of the iris composed of cells containing pigment granules
gastric cysts abnormal membranous sacs in the wall of the stomach
ectopic ovary one or both of the ovaries located outside the normal pathway of descent from the lumbar region to a shallow depression on the lateral wall of the pelvis known as the ovarian fossa; the fossa usually lies beneath the external iliac artery and in front of the ureter and the internal iliac artery; ovarian maldescent may be associated with Mullerian malformations
abnormal spleen weight anomaly in the average weight of the organ that functions to filter blood and to store red corpuscles and platelets
abnormal jaw morphology any structural anomaly of the bony framework of the mouth where the teeth are held
increased type ii pneumocyte number greater number of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored
decreased b-1a cell number reduced number of the B-1 B cell subset bearing the CD5 surface marker
absent epididymis absence of the elongated structure connected to the posterior surface of the testis, consisting of the head, body, and tail, which turns sharply on itself to become the ductus deferens (vas deferens)
abnormal odor adaptation altered ability or failure of the olfactory receptor neurons to adapt to ambient conditions by time-dependent modification in the sensitivity to a given odorant stimulus, as seen in the decline of the sensory response during prolonged odor stimulation; a major mechanism for the rapid calcium-calmodulin-mediated desensitization of the CNG channel
split notochord the appearance of an abnormal division in the axial fibrocellular cord in embryos around which develops the vertebral primordia
impaired ovarian folliculogenesis a block in the formation of the spherical ovum in the ovary
spontaneous chromosome breakage chromosome breakage due to inherent instability of chromosomes
small trachea reduced size of the tube descending from the larynx and branching into the right and left main bronchi
dilated dorsal aorta stretched or widened aperture of the luminal space of the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation
dilated sarcoplasmic reticulum an expansion in the volume in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere
increased diameter of long bones increased width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge
decreased susceptibility to induced pancreatitis reduced or absent inflammatory response in the pancreatic tissue after experimental manipulation
abnormal embryonic-extraembryonic boundary morphology any structural anomaly in the delineating tissue and the segregation between the embryo proper and extraembryonic tissues
abnormal t cell anergy any anomaly in the process contributing to anergy in T cells, a state of functional inactivation which is part of T cell tolerance induction
abnormal pancreatic beta cell proliferation anomaly in the ability of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas to undergo expansion by cell division
abnormal internal female genitalia morphology any structural anomaly of the internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina
parturition failure the process of labor and delivery in female animals does not initiate or complete
retinal deposits abnormal accumulation of material on the retina
increased pancreatic epsilon cell number increase in the number of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin
abnormal b cell number deviation from the normal count of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity
fused podocyte foot processes coalescence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries
abnormal cerebrospinal fluid production anomaly in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord
decreased glycogen catabolism rate decreased breakdown of this highly branched polysaccharide composed of glucose subunits; glycogen is the major carbohydrate storage form in the body
abnormal biliary tract morphology A structural abnormality of the biliary tree.
abnormal brain ependyma motile cilium morphology any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid
embryo tissue necrosis morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage
decreased lung tumor incidence less than the expected number of neoplams in the lung, usually in the form of a distinct mass, in a specific population in a given time period
decreased endolymph production reduced synthesis of the fluid that is normally contained within the membranous labyrinth of the inner ear
decreased urine creatinine level a reduced amount of creatinine in the urine compared to the normal state
abnormal spleen marginal zone morphology any structural anomaly of the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens
decreased satellite cell number less than the normal number of unfused cells in muscle that play a role in muscle regeneration
abnormal solitary pulmonary neuroendocrine cell morphology any structural anomaly of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis
polyploidy
increased sensitivity to induced morbidity/mortality decrease in the amount of an external agent required to cause death or diseased state
absent primitive node absence of the regional thickening of cells at the rostral tip of the vertebrate primitive streak through which gastrulating cells migrate anteriorally to form tissues in the future head and neck; this region organizes the formation of the three embryonic layers and establishes the longitudinal axis and the polarity of the embryo
abnormal rostral-caudal patterning of the somites anomaly in the developmental pattern of the somites along the axis that runs from the rostral to the caudal region of the body
absent strial intermediate cells absence of the melanocytes (i.e. crest-derived intermediate cells) normally located within the intrastrial space; loss of strial intermediate cells is known to lead to loss of the endocochlear potential
urinary bladder cysts abnormal membranous pouches or sacs usually filled with a fluid or viscous substance found along the internal lining of the urinary bladder
abnormal carbon dioxide level anomalous concentration of CO2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases
anencephaly
absent plasma cells absence of the terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin
abnormal meiotic spindle morphology an anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during meiosis
abnormal middle ear ossicle morphology any structural anomaly of the three small bones of the middle ear
abnormal corneal epithelium morphology any structural anomaly of the smooth stratified squamous epithelium that covers the outer surface of the cornea
embryonic lethality between somite formation and embryo turning death anytime between somite formation and the initiation of embryo turning (Mus: E8 to less than E9)
increased litter size greater numbers of live born pups in a litter compared to average
increased fat cell size increased size of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals
abnormal trophoblast glycogen cell morphology any structural anomaly of a glycogen-accumulating trophoblast cell that arises in the junctional zone of the placenta
decreased circulating prolactin level less than expected blood concentration of the hormone that stimulates milk secretion
increased susceptibility to dopaminergic neuron neurotoxicity greater than normal amount of dopaminergic neuronal cell death following exposure to a neurotoxic compound, such as MPTP-induced cell death occurring through interference in mitochondrial metabolism
increased bronchoconstrictive response enhanced or greater than expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography
multiple major aortopulmonary collateral arteries
intestinal obstruction
abnormal thoracic cage morphology any structural anomaly of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum
epididymis hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens
abnormal endocardium morphology any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the heart
decreased gamma-delta t cell number reduced number of immature or mature T cells expressing an gamma-delta T cell receptor complex
vacuolated lens fluid filled cavities are present in the cytoplasm of the transparent structure of the eye responsible for focusing light
cardiovascular system phenotype the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan
hypercapnia Abnormally elevated blood carbon dioxide (CO2) level.
abnormal timing of postnatal eyelid opening anomaly in the average time for the first postnatal eye opening, or failure of eyes to ever open
parathyroid hypoplasia Developmental hypoplasia of the parathyroid gland.
spherocytosis The presence of erythrocytes that are sphere-shaped.
increased adrenal gland weight greater average weight of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla
delayed muscle development late onset of the induction and/or differentiation of skeletal muscle
abnormal parietal lobe morphology any structural anomaly of the upper central part of the cerebral hemisphere
inlet ventricular septal defect .A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.
increased urine protein level greater than the normal amount of proteins in the urine
abnormal fertility/fecundity anomaly in the reproductive capability of an organism or population to produce live offspring
abnormal alpha-fetoprotein level
abnormal cochlear ihc afferent innervation pattern any changes in the placement, morphology or number of afferent terminals and/or their synapses in the cochlear IHC region
abnormal uterine artery morphology any structural anomaly of the branch of the internal iliac artery that supplies the uterus and the upper part of the vagina
absent epidermis stratum spinosum absence of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance
abnormal collateral sprouting aberrant response of a neuron to form new neuritic processes (sprouts) that emerge from the nerve fibers or terminal arborizations in response to nerve injury (such as section or denervation), application of neurotoxin, or target tissue atrophy (usually due to disease)
uterus hypertrophy increase in the bulk size of the female muscular organ of gestation due to cell enlargement
abnormal left-right axis symmetry of the somites anomaly in the formation or development of the somites in relation to the left and right sides of the body
double ureter A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.
abnormal dna replication any anomaly in the process whereby new strands of DNA are synthesized
abnormal white adipose tissue amount anomaly in the quantity of the white fat-storing cells/tissue
heart right ventricle degeneration replacement of cardiomyocytes in the right ventricle with fibrous tissue and/or fat
delayed vaginal opening the opening of the genital canal in a female occurring at a later than expected age
early sexual maturation
absent spleen germinal center absence of the area of the spleen secondary B follicle where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs
abnormal urine catecholamine level any anomaly in the urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines are act as hormones or neurotransmitters and are derived from the amino acid tyrosine
abnormal prostate gland development anomaly in the formation or pattering of the of the prostate gland
eye opacity changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life
abnormal kidney weight anomaly in the average weight of the organs responsible for urine secretion
joint swelling
thoracic vertebral fusion the union of one or more thoracic vertebrae into a single structure
abnormal circulating ghrelin level any anomaly in the blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland; in addition to stimulating appetite and growth, ghrelin also plays various roles in energy homeostasis, neuropathy, and in the cardiovascular and immune systems
hypoglycemia
short ulna Underdevelopment of the ulna.
absent skeletal muscle absence of any of the striated muscle fibers connected at either or both extremities with the bony framework of the body
abnormal optic cup morphology any structural anomaly of double walled structured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye
abnormal follicular b cell morphology any structural anomaly of a resting mature B cell with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes
increased thyrotroph cell number greater number of an anterior pituitary cell that produces thyroid-stimulating hormone
absent inner ear vestibule absence of the cavity between the semicircular canals and the cochlea of the inner ear
abnormal phospholipid level anomalous concentration of the fat derivatives in which one fatty acid has been replaced by a phosphate group
abnormal inner cell mass apoptosis the cells of the blastocyst that develop into the body of the embryo are undergoing programmed cell death
abnormal mineral homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of inorganic substances that have importance in body functions
decreased cellular sensitivity to gamma-irradiation decreased incidence of cell death following exposure to gamma-irradiation
mammary gland alveolar hyperplasia overdevelopment or increased size, usually due an increased number of cells of the sac-like structure of the mammary gland that secretes milk after pregnancy
decreased inferior colliculus size decreased size of the paired inferior eminence of the mesencephalic tectum
decreased hair follicle number fewer number of the epidermal invaginations from which the hair shaft develops
abnormal sphingomyelin level deviation in the expected amount of any of a group of phospholipids that are found especially in, but not restricted to, nerve tissue and yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis
ectopic ureter an abnormally placed opening of the ureter, either into the urinary bladder or at another site in the lower urinary or genital tract; commonly a result of a duplicated renal collecting system, a duplex kidney with two ureters where usually one ureter terminates at the urinary bladder, while the duplicated ureter being ectopic, ends in the vagina, the urethra or the vulval vestibule
asthenozoospermia loss or reduction of the mobility of the spermatozoa, frequently associated with infertility
abnormal neuronal stem cell morphology any structural anomaly of an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors
absent embryonic epiblast absence of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion
abnormal hippocampal commissure morphology any structural anomaly of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side
abnormal glomerular capsule parietal layer morphology any structural anomaly of the outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium
absent trophectoderm cell proliferation
environmentally induced seizures seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage
abnormal inguinal lymph node morphology any structural anomaly of the lymph nodes located in the groin area
absent cochlear outer hair cell electromotility absence or loss of motility of the cochlear OHCs in response to electrical stimulation
abnormal pectoral muscle morphology any structural anomaly of the two muscles that make up the upper and fore part of the chest that adduct and rotate the arm and lift the ribs
abnormal sperm principal piece morphology any structural anomaly in the segment of the sperm flagellum where the mitochondrial sheath ends and the outer dense fibers (ODFs) associated with outer axonemal doublets 3 and 8 are replaced by the 2 longitudinal columns of the fibrous sheath (FS) which run the length of the principal piece and are stabilized by circumferential ribs; the principal piece makes up ~2/3 of the length of the sperm flagellum and is defined by the presence of the FS and of only 7 (rather than 9) ODFs which taper and then terminate near the distal end of the principal piece
abnormal white fat cell number anomaly in the number of fat cells with light coloration and few mitochondria
absent trabeculae carneae missing supporting bundles of muscular fibers lining the walls of the ventricles of the heart
decreased circulating potassium level less than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle
glomerulonephritis A nephritis that causes inflammation of the glomeruli located_in kidney.
abnormal pulmonary acinus morphology any structural anomaly of the part of the airway consisting of a respiratory bronchiole and all of its branches
truncated notochord notochord morphology that terminates abruptly as if having an end or point cut off
abnormal gametogenesis defective formation or differentiation of germ cells
failure of neuromuscular synapse presynaptic differentiation inability of nerve terminals to find target and/or form terminal arbors for synaptic transmission at the neuromuscular synapse
increased spindle cell carcinoma incidence greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle shape cells with sarcomatous appearance
abnormal lymphatic vessel smooth muscle morphology any structural anomaly of the nonstriated, involuntary muscle tissue that encompasses the lymphatic vessels
enlarged lumbar vertebrae increased size of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae
decreased mature b cell number reduced number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex
alcohol preference predilection to ingest alcohol over other substances
heart block Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.
increased cholesterol efflux greater level of removal of excess cholesterol from cells by an active transport pathway
abnormal external auditory canal morphology any structural anomaly of the canal that connects the outer and middle ear
occipital bone foramen presence of a hole in the bone at the lower, posterior part of the skull
abnormal sympathetic nervous system physiology any functional anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations
abnormal tooth eruption anomalies in the passage of a tooth through the alveolar process and perforation of the gums
head bobbing repetitive up and down movement of the head
enlarged trigeminal ganglion increased size of the group of sensory neuron cell bodies associated with the trigeminal nerve
pyelitis
abnormal adaptive thermogenesis anomaly in the regulated production of heat in response to short term environmental changes, such as stress, diet or reduced temperature, often resulting in metabolic inefficiency or death
abnormal pulmonary trunk morphology any structural anomaly of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery
abnormal intersomitic vessel morphology any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites
abnormal pulmonary collagen fibril morphology any structural anomaly of the connective tissue bundles in the extracellular matrix of pulmonary tissue that are composed of collagen, and play a role in tissue strength and elasticity
altered susceptibility to viral infection a change in the likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus
abnormal thymus weight anomaly in the average weight of the primary lymphoid organ that is required for maturation of T cells
sutural cataracts a lens opacity which follows the shape of anterior or posterior Y suture of the fetal lens and is not progressive; often more severe in males and is congenital, but usually does not affect vision
abnormal interparietal bone morphology any structural anomaly of the bone of the cranium that lies above and anterior to the occipital bone in some mammals
abnormal branching involved in alveolar sac morphogenesis anomaly in the process in which the terminal alveolar sacs are generated
increased circulating ammonia level
small exoccipital bone reduced size of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young
abnormal forebrain development anomaly in the formation or patterning of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions)
atrium cysts abnormal membranous sacs in any portion of the paired upper chambers of the heart
decreased circulating interleukin-1 level reduction in the amount in the blood of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens
enlarged inguinal lymph nodes increased size of the lymph nodes located in the groin area
increased splenocyte number increase in the expected number of cells of the spleen
abnormal carbohydrate absorption
liver inflammation
abnormal bile composition any alteration in the chemical make up of the greenish-yellow fluid secreted by the liver; normally contains bile acids and salts such as sodium glycocholate and sodium taurocholate as well as cholesterol, biliverdin and bilirubin, mucus, fat, lecithin, and cells and cellular debris
fused joints partial or complete absence of a functional articulation point of two or more bones
abnormal laryngeal mucosa goblet cell morphology any structural anomaly of the epithelial cells lining the larynx, which produce mucins
edema An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
increased circulating adrenaline level greater than the normal concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels
persistent truncus arteriosus type i complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type i is characterized by origin of a single pulmonary trunk from the left lateral aspect of the common trunk, with branching of the left and right pulmonary arteries from the pulmonary trunk
impaired behavioral response to cocaine decreased sensitivity to cocaine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response
abnormal enteric neural crest cell migration any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut; NCCs are termed enteric neural crest-derived cells upon entering the foregut at E9-9.5 in mice (after 4 weeks gestation in humans) and the colonization process is complete by E15.5 (after 7 weeks gestation in humans)
partial embryonic lethality between implantation and somite formation the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the point of implantation and somite formation (Mus: E4.5 to less than E8)
vision/eye phenotype
abnormal nk t cell morphology any structural anomaly of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments
abnormal spleen morphology any structural anomaly of the organ that functions to filter blood and to store red corpuscles and platelets
abnormal mucosa-associated lymphoid tissue morphology any structural anomaly of the regional immune system associated with the mucosa
increased hematocrit An increase in the volume of packed erythrocytes in a blood specimen.
renal fibrosis
increased immunoglobulin level An increased level of gamma globulin (immunoglobulin) in the blood.
abnormal sternum manubrium morphology any structural anomaly of the broad, handle-like part of the sternum which articulates with the clavicles and the first two pairs of ribs
increased hindbrain apoptosis increase in the number of cells of the hindbrain undergoing programmed cell death
abnormal muscle tone
decreased urine ammonia level a reduced amount of ammonia in the urine compared to the normal state
abnormal hippocampal fornix morphology any structural anomaly of the compact, white, heavily myelinated fiber bundle arising from the Ammon horn of the hippocampus in each cerebral hemisphere and projecting to the hypothalamus and the mammillary body
loss of dopaminergic neurons loss of the neurons that utilize dopamine as a neurotransmitter, commonly due to an apoptotic event
abnormal orientation of outer hair cell stereociliary bundles misorientation or rotation of outer hair cell (OHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium
short stride length reduced average distance between steps
hydropic allantois excessive accumulation of fluid within the allantoic sac
increased susceptibility to neuronal excitotoxicity greater than normal amount of neuronal cell death following exposure to a neurotoxic compound, such as kainate-induced neuronal cell death mediated via a glutamate excitotoxic process
variable body spotting the appearance of patches of white fur at random on the coat
increased aerobic running capacity greater ability to run at defined speeds and/or distances compared to controls
hemimelia Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity.
abnormal dorsal-ventral polarity of the somites anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body
atretic vasculature absence or absence of the lumen of vasculature
impaired contractility of jejunal smooth muscle inability or reduced ability of the jejunal smooth muscle to shorter or to develop increased tension
abnormal astrocyte physiology any functional anomaly of one of the large neuroglia cells of nervous tissue
calcified joint pathologic deposition of calcium salts in the joints
situs inversus with levocardia
albuminuria The presence of albumin in the urine, an indicator of KIDNEY DISEASES.
abnormal suckling behavior reduced ability or inability to exert suction by the mouth, or atypical suckling pattern
increased insulinoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the pancreatic islet beta cells, occurring in a specific population in a given time period; these tumors secrete excess insulin
dilated pharyngeal arch arteries stretched or widened aperture of the luminal space of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels
abnormal trophectoderm morphology any structural anomaly outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition
hemorrhage loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels
dilated gallbladder abnormal distention of the gall bladder due to accumulation of fluid or bile
abnormal neutrophil physiology abnormal function of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes
abnormal lymphopoiesis atypical formation of lymphocytes and plasma cells from lymphoid stem cells which develop from the pluripotent hematopoietic stem cells in the bone marrow; lymphoid stem cells differentiate into T-lymphocytes; B-lymphocytes; plasma cells; or NK-cells (natural killer cells), depending on the organ or tissues to which they migrate
decreased pancreas regeneration less than the normal ability of the pancreas to regenerate healthy tissue following injury
abnormal heart right ventricle morphology any structural anomaly of the right lower chamber of the heart
decreased cranium length having an decreased dorsal-to-ventral distance of the cranium
abnormal somatotroph morphology any structural anomaly of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin
calcified skin pathologic deposition of calcium salts in the skin
abnormal uterus development abnormal morphogenesis of the female muscular organ of gestation
increased natural killer cell mediated cytotoxicity increased ability of directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors
decreased platelet atp level reduced concentration of the major energy source adenosine triphosphate produced by dense bodies located in platelets
taste/olfaction phenotype
abnormal neuron apoptosis change in the timing or the number of neurons undergoing programmed cell death
abnormal epidermal pigmentation anomaly in the coloration of the epidermal layer of the skin due to changes in the amount, shape, or distribution of cells producing pigment
increased leukocyte cell number
delayed caudal neuropore closure a delay in the joining together of the neural folds of the caudal opening of the neural tube
increased pancreatic alpha cell number increase in the number of the cells of the pancreas that secrete glucagon
abnormal pulmonary alveolar sac morphology any structural anomaly of the small terminal dilation of the alveolar ducts around which the alveoli form pocket-like clusters
decreased circulating parathyroid hormone level reduction in the blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body
muscle weakness Reduced strength of muscles.
detached podocyte detachment or loss of adhesion of podocyte foot processes from the glomerular basement membrane (GBM); as a consequence, denuded GBM areas at peripheral capillary loops can become foci for adhesions to parietal epithelial cells (glomerular synechiae) and crescent formation, and podocytes and podocyte-specific proteins may be found in the urine
sacral vertebral transformation homeotic transformation of any sacral vertebrae to adopt the fate of another vertebrae
renal/urinary system phenotype
ectopic bone formation Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.
abnormal fourth pharyngeal arch morphology any structural anomaly of the fourth arch which contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus
abnormal gustatory papillae morphology any structural anomaly of the papillae that contain taste buds, including the fungiform, foliate, and circumvallate papillae
absent cerebellum missing the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement
abnormal brain ependyma morphology any structural anomaly of the cellular membrane that lines the brain ventricles
absent arcus anterior absence of the arch that connects the lateral masses of the atlas anteriorly and articulates with the anterior articular facet of the dens of the axis
absent superior olivary complex missing nucleus of neurons on the dorsal part of the lateral surface of the pons; it normally receives projection fibers from the cochlear nuclei and is prominently involved in spatial localization of sound
abnormal induced retinal neovascularization any anomaly in the response to conditions which induce the pathological growth of vessels into the retina
abnormal otic capsule morphology any structural anomaly of the cartilage or bony capsule surrounding the inner ear mechanism
hyperglycemia
hypergranulosis increased thickness of the granular layer of the epidermis
abnormal aorta tunica media morphology any structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers
thin cerebral cortex decreased depth of the mantle covering the surface of the cerebral hemispheres
gastric metaplasia
coronary artery aneurysm a protruding sac formed by the dilation of the wall of a coronary artery resulting from a weakening of the vessel wall
tonic-clonic seizures
behavioral arrest locomotor activity is interrupted by sudden periods of no movement
abnormal circulating lipoprotein level any anomaly in the concentration in the blood of any complex or compound containing both lipid and protein, are important components of biological membranes and myelin, and participate in lipid transport
abnormal glomerular mesangium morphology any structural anomaly of the inner layer of the glomerulus within the basement membrane surrounding the glomerular capillaries that contain the intraglomerular mesangial cells
uremia
embryonic lethality at implantation death due to failure of implantation (Mus: E4.5)
increased corneal light-scattering anomaly in the normal transmission of light through the cornea; light is reflected or absorbed instead; often due to anomalies in the arrangement of lamella in the corneal stroma
increased pituitary hormone level greater than the expected amount of any of the pituitary hormones in the blood or tissues
absent memory b cells absence of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin
abnormal vascular regression premature regression or persistence of vessels programmed to regress and/or loss of vessels not programmed to regress
increased glycogen catabolism rate increased breakdown of this highly branched polysaccharide composed of glucose subunits; glycogen is the major carbohydrate storage form in the body
decreased interleukin-18 secretion reduction in the production or release of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity
abnormal caput epididymis morphology any structural anomaly of the head of the epididymis
abnormal trabecular bone mass anomaly in the total amount of trabecular bone tissue contained in the skeleton
decreased left ventricle diastolic pressure decrease in the pressure in the left ventricle between heart beats when the heart is relaxed
persistence of notochord tissue failure of notochord tissue to differentiate into the vertebral primordia during development resulting in the presence of notochord tissue at later stages than it is normally seen
abnormal reissner membrane morphology any structural anomaly of the membrane which separates the cochlear duct from the vestibular canal, i.e. the endolymph of the scala media from the perilymph of the scala vestibuli; the Reissner membrane consists of squamous epithelial cells with microvilli toward the ductus, a basement membrane, and a thin layer of connective tissue toward the scala
scoliosis An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)
aneurysm Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
absent myotome absence of the mesoderm that is derived from the somite that is fated to become the musculature
increased brain cholesterol level greater than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues
decreased circulating adrenocorticotropin level decreased concentration in the blood of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex
abnormal urine hormone level any change in the urine amount of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs
abnormal p wave any anomaly in the P wave which represents atrial depolarization and corresponds to electrical impulses rather than mechanical atria contractions; irregular or absent P waves may indicate arrhythmia and the shape of the P waves may indicate atrial problems
partial prenatal lethality the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)
abnormal prostate gland ventral lobe morphology any structural anomaly of the rodent prostate lobe that is located below the ventral aspect of the bladder neck
abnormal pancreatic delta cell physiology any functional anomaly of the cells found in the pancreas that secrete somatostatin
abnormal circulating estrogen level aberration in the blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics
abnormal innate immunity anomaly in the function of the early phase of the response to infection; normally, it is present at all times, does not increase with exposure to specific pathogens, and does not discriminate between pathogens
failure of endochondral bone ossification failure to initiate or a block in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone
absent pulmonary artery A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.
absent stapedial artery absence of the small artery that passes through the ring of the stapes
increased circulating glucagon level increase in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes
increased basophil cell number higher than average number of basophils as measured by the percent of the total number of leukocytes
absent carpal bone Congenital absence of a carpal bone.
absent circulating adrenaline absence in the circulation of a catecholamine hormone that stimulates the adrenergic receptors and causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels
abnormal scapular spine morphology any structural anomaly of the triangular ridge on the dorsal aspect of the scapula which separates the supra- from the infraspinatous fossa and where the trapezius and deltoid muscles are attached
increased reichert's membrane thickness increased width of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm
abnormal synaptic vesicle morphology any structural anomaly of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents
abnormal renal filtration any anomaly in the renal system process in which fluid circulating through the body is filtered through a barrier system
tachypnea Very rapid breathing.
loss of hippocampal neurons loss of neurons in the hippocampal region of the brain, commonly due to an apoptotic event
decreased immature b cell number reduced number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity
decreased hepatocyte apoptosis reduction in the number of hepatocytes undergoing programmed cell death
abnormal nociceptor morphology any structural anomaly of any of the peripheral receptors for pain, including receptors sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli
abnormal mammary gland connective tissue morphology any structural anomaly of the fibrous supportive tissue of the mammary gland
thick heart valve cusps an increase in the heart cusp wall thickness
abnormal glucose tolerance An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.
abnormal septum of telencephalon morphology any structural anomaly of the gray matter structures of the telencephalon and limbic system in the brain; included is the cortical septal area, subcortical septal nuclei, and the septum pellucidum; however, many authorities consider the septal region to be made up of the septal area and the septal nuclei, but excluding the septum pellucidum
partial lethality the appearance of lower than Mendelian ratios of offspring of a given genotype due to death of some, but not all of the organisms
abnormal retinol level any anomaly in the concentration of retinol, which plays an essential role in metabolic functioning of the retina, and growth and differentiation
decreased heart left ventricle size less than average size of the left ventricle compared to the average for a particular population
abnormal oropharynx morphology any structural anomaly of the portion of the pharynx that lies between the soft palate and the upper edge of the epiglottis
proximal convoluted tubule brush border loss attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes
abnormal t follicular helper cell number anomaly in the number of the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production
absent b-2 b cells absence of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells
abnormal reichert's membrane thickness anomaly in the width of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm
abnormal chemically-elicited antinociception change in the analgesic effect of chemical substances
abnormal circulating potassium level anomalous concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle
abnormal retinal development anomaly in any of the steps during embryogenesis that produce the nerve layer lining in the back of the eye which senses light, and creates impulses that travel through the optic nerve to the brain
abnormal organ/body region tumor incidence anomaly in the expected number of tumors originating in a specific body region or organ in a given population in a given time period
aortopulmonary window A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt.
abnormal temporalis muscle morphology any structural anomaly of the superior-most masticatory muscle whose action is closing the jaws; its posterior portion retracts the mandible
delayed wound healing longer time requirement for the ability to self-repair and close wounds than normal
absent oviduct absence of the tube through which the ova pass from the ovary to the uterus
weight loss Reduction inexisting body weight.
abnormal behavioral response to morphine any anomaly in the behavioral response induced by morphine, such as induced hyperactivity or stereotypic behavior
decreased macrophage cytokine production reduced production of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in an decrease in its intracellular or extracellular levels
absent vestibular hair cells absence of the sensory epithelial cells of the maculae and cristae of the membranous labyrinth of the inner ear which are normally in synaptic contact with the vestibular nerve
abnormal circulating adrenaline level aberrant concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels
abnormal lung saccule morphology any structural anomaly of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth
preneoplasia state preceding the pathological process resulting in a neoplasm; does not necessarily imply cancerous development
abnormal brown fat cell lipid droplet size anomaly in the size of the multiple small droplets of triglycerides found in brown adipocytes
osteoporosis Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis.
abnormal palatal shelf fusion at midline any anomaly in the process in which the palatal shelves grow toward the midline and adhere along the medial edge epithelia, forming the midline epithelial seam which disappears in later stages
absent hair-down neurons absence of the subcutaneous mechanosensitive D-hair (down-hair) neurons, which innervate hair follicles, and are characterized by a large-amplitude Cav3.2 T-current involved in the amplification of slow-moving and/or light touch stimuli
decreased splenocyte number reduction in the expected number of cells of the spleen
decreased placenta weight reduction in the weight of the organ of metabolic interchange between fetus and mother
abnormal negative t cell selection any anomaly in the process of elimination of immature T cells which react strongly with self-antigens
increased extensor digitorum longus weight increase in the weight of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle
abnormal astrocyte morphology any structural anomaly of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord; astrocytes are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier; astrocytes regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury
abnormal heart ventricle pressure any anomaly in the pressure within a cardiac ventricle
decreased macrophage cell number fewer than the normal numbers of macrophages
clinodactyly An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
abnormal respiratory function anomaly in any measure of the processes involved in respiration
fusion of basioccipital and basisphenoid bone union of the basioccipital and basisphenoid bones into one structure, when this fusion does not normally occur (such as in a species where these bones normally persist as separate entities)
abnormal lymphocyte physiology any functional anomaly of any of the white blood cells that includes B cells, T cells, and NK cells
abnormal gastrointestinal motility anomaly in the propulsive movements of the digestive system, resulting in the transit of the contents along the gastrointestinal tract
absent pr interval absence of the ECG segment representing the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex
abnormal mononuclear cell differentiation atypical production of or inability to produce a leukocyte with a single non-segmented nucleus in the mature form
olfactory bulb hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the forebrain region that coordinates neuronal signaling involved in the perception of smell
abnormal otolith organ morphology any structural anomaly in the utricle and saccule of the inner ear which possess otoliths and respond to linear acceleration and deceleration, including gravity
absent cochlear outer hair cells absence of the columnar outer hair sensory cells of the organ of Corti
abnormal circulating amylase level any anomaly in the concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood
increased prostaglandin level increase in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation
abnormal t cell receptor delta chain v(d)j recombination any anomaly in the process by which V, D, and J segments of the T cell receptor delta chain are recombined
abnormal ureter smooth muscle morphology any structural anomaly of the smooth muscle tissue surrounding the epithelium of the ureter
abnormal vitamin a metabolism altered ability to metabolize any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid; animals can not synthesize vitamin A de novo, but form it through oxidative cleavage of carotenoids supplied in the diet
abnormal diaphragm morphology any structural anomaly of the thin musculomebranous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control
abnormal cingulate gyrus morphology any structural anomaly of the ridge in the cerebral cortex located dorsal to the corpus callosum that controls autonomic functions regulating heart rate and blood pressure as well as cognitive and attentional processing
abnormal aorta tunica adventitia morphology any structural anomaly of the outermost layer of the aorta wall, containing connective tissue and collagen and elastic fibers
abnormal testis development abnormal morphogenesis of the male reproductive gland containing the germ cells
abnormal neural tube marginal layer morphology any structural anomaly of the outermost layer of the neural tube that contains nerve fibers and will form the white matter
decreased cumulus expansion reduced ability of the ovarian cumulus cells to secrete an extensive extracellular matrix required for successful fertilization
kidney degeneration a retrogressive impairment of function or destruction of either or both of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine
abnormal tail morphology any structural anomaly of the flexible elongated appendage located at the caudal end of the torso in many species; it is usually continuous with the vertebral column
thin epidermis stratum spinosum reduced thickness of the stratum spinosum; the polyhedral cell layer
abnormal brain zinc level any anomaly in the amount of zinc present in mammalian brain tissue, where 5-15 percent of total zinc is concentrated in synaptic vesicles in a subset of glutamatergic neurons; histochemically reactive zinc is present in many regions of the central nervous system and is especially abundant in the hippocampus
abnormal corneal endothelium morphology any structural anomaly of the single layer of large flattened cells that cover the surface of the cornea
absent theca folliculi absence of the internal, external or both layers of the sheath of stroma surrounding a secondary ovarian follicle
decreased pancreatic acinar cell number reduced number of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes
abnormal osteoid thickness anomaly in the width of the layer of newly formed organic bone matrix secreted by osteoblasts
abnormal gastrocnemius weight any anomaly of the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles
abnormal hypodermis morphology any structural anomaly of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia; usually consisting primarily of a fatty layer and may also include a muscle layer and/or a fibrous layer, or it may occur as a membranous layer only, being nearly devoid of fat; it contains skin ligaments extending between the dermis and deep fascia, cutaneous nerves, and superficial vessels, with terminal branches passing into the skin layers
increased metastatic potential greater likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it
abnormal extraembryonic ectoderm morphology any structural anomaly of the layer of the ectoderm of the extraembryonic tissue
calcified aortic arch
abnormal bile duct development incomplete or aberrant differentiation of the channels that secrete bile from the liver to the gall bladder and intestines
seminal vesicle atrophy acquired size diminution of the seminal vesicles, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
conjunctivitis Conjunctivitis is a conjunctival disease described as a inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids, which is most commonly due to an allergic reaction or an infection (usually viral, but sometimes bacterial. Fungal infections are rare and occur mainly in people who use corticosteroid eye drops for a long time or have eye injuries involving vegetable matter. Newborns are particularly susceptible to eye infections, which they acquire from organisms in the mother's birth canal (neonatal conjunctivitis.
increased transitional stage b cell number greater number of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection
abnormal fontanelle morphology any structural anomaly in the membranous interval at the margins of cranial bones in neonates
short vibrissae decreased length of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors
abnormal a wave shape any anomaly in the graphical representation of the a wave in the electroretinogram; the a wave represents the general physiological health of the photoreceptors in the outer retina
abnormal pituitary infundibular stalk morphology any structural anomaly of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland
abnormal retinal ganglion layer morphology any structural anomaly of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain
abnormal coping response altered ability to respond productively to a stressful situation or stimulus, or failure to seek pleasurable stimuli
enhanced behavioral response to xenobiotic increased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or reduced dosage threshold for the appearance of the behavioral response
absent kidney cortex absence of the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration
abnormal right lung caudal lobe morphology
impaired spacing of implantation sites in organisms which give birth to multiple offspring in one litter, blastocysts fail to implant at intervals conducive to the formation of a normal enveloping membrane or decidua for each conceptus from the epithelial tissue of the endometrium lining of the uterus
abnormal midbrain size deviation from the average range of midbrain size compared to normal
anomalous pulmonary venous connection abnormal development and attachment of the four pulmonary veins that normally attach to the left atrium of the heart, resulting in either partial or complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery
decreased susceptibility to osteoporosis reduced likelihood that an organism will develop a reduction in bone mass or atrophy of skeletal tissue, usually accompanied by gross changes to bone matrix, leading to bone fragility
abnormal monocyte morphology any structural anomaly of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood
decreased tendon stiffness reduced ability of tendon to maintain tensile strength and load
abnormal amacrine cell morphology any structural anomaly of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer
umbilical cord hemorrhage bleeding into or from the umbilical cord
abnormal organ of corti supporting cell morphology any structural anomaly in the highly differentiated epithelial cells with distinctive morphological features surrounding the hair cells in the organ of Corti; inner hair cells (IHCs) are normally surrounded by (inner and outer) phalangeal cells while OHCs are in contact with Deiters and pillar cells; Hensen cells are positioned further laterally in the organ of Corti
extremity edema an accumulation of serous fluid in the limbs, paws and tail
absent radius Missing radius bone associated with congenital failure of development.
abnormal blood vessel elastic tissue morphology any structural anomaly of the tissue that is found in the tunica media of the vessels wall and allows vessels to stretch
abnormal mammary gland epithelium physiology any functional anomaly of the mammary gland epithelium which is normally enveloped by a basement membrane, embedded into fatty connective tissue stroma, and organized as a bilayer, with an inner luminal layer of secretory epithelial cells, and an outer basal layer; each cell layer expresses specific molecular markers; luminal epithelial cells are characterized by the expression of the receptors for systemic hormones, i.e. estrogens, progesterone and prolactin, whereas basal cells (aka myoepithelial cells) express smooth muscle contractile proteins; in functionally differentiated mammary gland, during lactation, luminal cells produce milk, whereas myoepithelial cells are contractile and serve for milk expulsion
abnormal spinal cord grey matter morphology any structural anomaly of the ridge-shaped grey matter of the spinal cord that extends longitudinally through the center of each half of the spinal cord, and are largely or entirely composed of nerve cell bodies and their dendrites and some supportive tissue
abnormal muscle precursor cell physiology anomaly in the function of cells that will develop into muscle cells
increased igg3 level greater than normal immunoglobulin class G3 level
aorta hypoplasia underdevelopment or reduced size of the main trunk of the systemic arterial system that originates from the base of the left ventricle of the heart and extends to the abdomen at the point where it branches into the common iliac arteries, usually due to reduced cell number
skin hemorrhage bleeding into the skin
abnormal spleen white pulp morphology any structural anomaly of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies
sparse hair Reduced density of hairs.
shortened hv interval decrease in the length of time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity
impaired macrophage phagocytosis reduced ability of macrophage phagocytic cells to internalize particulate matter
abnormal liver perisinusoidal space morphology any structural anomaly of the extravascular space in the liver between the parenchymal cells and a sinusoid that contains the blood plasma
short umbilical cord Decreased length of the umbilical cord.
abnormal urine prostaglandin level any change in the urinary amount of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation
abnormal digit pigmentation anomaly in the coloration of the fingers or toes due to changes in the amount, shape, or distribution of cells producing pigment
decreased urine magnesium level
abnormal third pharyngeal arch morphology any structural anomaly of the third are which contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus
abnormal circulating interleukin-2 level anomaly in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes
abnormal pml bodies alteration in structure, number or location of the subnuclear structures associated with functions including transcription, DNA repair, viral defense, stress, cell cycle regulation, proteolysis and apoptosis
abnormal memory b cell morphology any structural anomaly of a distinctly differentiated long-lived B cell that is readily activated upon reencounter of its antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin
abnormal lamina terminalis morphology any structural anomaly of the anterior-most (rostral) portion of the wall of the neural tube, formed by closure of the anterior neuropore; the median strip of the anterior wall of the prosencephalon, which persists in a relatively unchanged state as the cerebral hemispheres grow out forward beyond the original anterior end of the prosencephalon; in the developed brain, the lamina terminalis remains as the thin rostral wall of the third ventricle, stretching from the bases of the major cerebral commissures (the anterior commissure, the commissure of the fornix, and the rostrum of the corpus callosum) to the dorsal surface of the optic chiasm
disheveled coat coat that looks generally unkempt
heart hypoplasia
decreased startle reflex greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch
decreased grooming behavior reduced amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring)
increased retinal photoreceptor cell number greater than the expected number of rods and/or cones
increased hemoglobin concentration distribution width higher than normal standard deviation of the distribution of erythrocytes by their cellular (individual) hemoglobin concentrations; high HDW is indicative of some types of anemia/thalassemia
abnormal cytotoxic t cell physiology any functional anomaly of the subset of CD8-positive T lymphocytes capable of directly killing appropriately targeted cells
cleft lip
abnormal eosinophil physiology any functional anomaly of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions
impaired myofibroblast differentiation reduced ability or inability to produce myofibroblasts, cells that have characteristics of both a fibroblast cell and a smooth muscle cell and are reportedly capable of secreting IL-1beta, IL-6, and TNF-alpha
absent tympanic membrane absence of the thin, tense membrane forming the greater part of the lateral wall of the tympanic cavity and separating it from the external acoustic meatus; the tympanic membrane constitutes the boundary between the external and middle ear
absent embryonic cilia absence of cilia on the cells of the embryonic node
hypospadia a urethral opening located below the normal location; in males, the opening is usually on the ventral surface of the penis, and in females, the opening is usually in the vagina
increased circulating hdl cholesterol level higher amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion
abnormal skin sebaceous gland morphology any structural anomaly of the holocrine glands of the dermis that secrete sebum into the hair follicles
increased exploration in new environment greater amount of time spent investigating new location
abnormal optic chiasm morphology any structural anomaly in the flattened quadrangular body that is the point of crossing of the fibers of the optic nerves
ethmoturbinate hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the conchae of the ethmoid bone which occupy the caudal part of the nasal fossae and form the lateral and superior portions of the turbinate bones in mammals
thick hair follicle outer rooth sheath increased thickness of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb
altered tumor pathology any changes associated with the chemistry, immunohistology, cellular alterations or environmental interactions of tumors compared to the expected state
absent nucleus pulposus missing the notochord remnant normally found in the center of the intervertebral disc
abnormal skeleton physiology any functional anomaly of the bony framework of the body
absent enterocytes absence of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen
increased width of hypertrophic chondrocyte zone increased width of cartilage cell matrix layer
abnormal gallbladder epithelium morphology any structural anomaly of the simple columnar epithelial lining of the gall bladder
absent male preputial gland a lack of the sebaceous glands of the corona and neck of the glans penis
abnormal circulating serum amyloid protein level deviation from the normal blood levels of an acute-phase reaction protein that is a precursor to amyloid A protein; it is present in very high levels during acute inflammatory episodes, and is present in low concentrations in normal sera, but is found at higher concentrations in sera of older persons and in patients with amyloidosis
increased acute inflammation greater than the expected early reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response
abnormal leukocyte cell number any anomaly in the number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue
abnormal circulating protein level anomaly in the amount in the blood of any of the macromolecules consisting of long chains of amino acids in peptide linkage
reticulocytopenia A reduced number of reticulocytes in the peripheral blood.
internal hemorrhage The presence of hemorrhage within the body.
absent mandibular angle absence of the portion of the mandible where the body of the mandible (horizontal portion) and the rami (perpendicular portions) meet; these normally unite nearly at right angles
increased or absent threshold for auditory brainstem response increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click
decreased susceptibility to injury less than the normal reaction to trauma, especially that by physical means
abnormal artery development anomaly in the process of forming the blood vessels that carry blood away from the heart
hyoid bone hypoplasia underdevelopment of the hyoid bone, usually due to a deficiency in the number of cells
abnormal hair follicle melanin granule morphology any structural anomaly of the pigment particles in the hair follicles
enlarged pancreatic islets increase in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas
abnormal embryonic neuroepithelial layer differentiation abnormal or arrest of differentiation or patterning of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells
increased circulating ldl cholesterol level greater amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions
abnormal nonmotile primary cilium physiology any functional anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate and organize sensory signaling molecules
small limb buds reduced size of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs
increased mean platelet volume Average platelet volume above the upper limit of the normal reference interval.
decreased transitional stage b cell number reduced number of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection
increased marginal zone b cell number greater number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL
true hermaphroditism The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.
decreased susceptibility to weight loss smaller decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction, infection or xenobiotic treatment
decreased erythroid progenitor cell number reduced numbers of progenitors of the erythrocyte lineage
increased mature ovarian follicle number than normal numbers of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle
decreased sebocyte cell number fewer than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation
bidirectional circling circling behavior exhibited in both clockwise and counterclockwise directions
abnormal tendon collagen fibril morphology any structural anomaly of the connective tissue bundles in the extracellular matrix of tendon tissue that are composed of collagen, and play a role in tissue strength and elasticity
abnormal tracheal smooth muscle morphology any structural anomaly of the smooth muscle lining the trachea
abnormal cochlear basement membrane morphology any structural anomaly in the continuous basement membrane found within the membranous labyrinth of the cochlea, known to extend from the limbus, down to the inner sulcus, across the basilar membrane, up to the external sulcus to the spiral prominence and radiating into the spiral ligament ensheathing the root cell processes
abnormal cervical flexure morphology any structural anomaly in the ventrally concave flexure of the embryonic brain occurring at the junction of hindbrain and spinal cord
cholestasis
ectopic adrenal gland Abnormal anatomical location of the adrenal gland.
increased liver adenocarcinoma incidence greater than the expected number of a malignant neoplasm of epithelial cells in the liver, occurring in a specific population in a given time period
polydactyly
absent harderian gland absence of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane
abnormal macula densa morphology any structural anomaly of the specialized group of densely packed epithelial cells marking the origin of the convoluted portion of the distal tubule of a nephron, in contact with the afferent arteriole of the renal corpuscle and contiguous with the juxtaglomerular cells; these cells are tall, thin and columnar, have prominent nuclei, and act as sensors of solute concentration and flow of tubular fluid
abnormal fetal size anomalous proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)
abnormal vertebral column morphology any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord
abnormal circulating free fatty acids level any anomaly in the blood concentrations of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues
abnormal left-right axis patterning anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ
small myocardial fiber decreased size of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart
shortened qrs complex duration decrease in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart
limp posture lack of rigidity of the carriage of the body
abnormal pulmonary neuroendocrine body morphology any structural anomaly of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors
abnormal atrioventricular bundle conduction anomaly in the transfer of cardiac electrical impulses through the specialized cardiac muscle fibers that originates in the atrioventricular node and extends into the ventricle
decreased circulating dihydrotestosterone level reduction in the blood concentration of a potent androgenic metabolite of testosterone
abnormal hair shaft melanin granule distribution disruption in the regular arrangement of pigment polymers in the hair shaft
kyphoscoliosis An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
short malleus reduced length of the largest of the three auditory ossicles, which resembles a club or hammer
abnormal sex gland secretion anomaly in the production and/or release of hormones from a cell or a gland of the reproductive system
short hair reduced average length of the hairs
persistence of hyaloid vascular system failure of the degeneration of the transient vascular system of the eye during development, that normally nourishes the retina, immature lens and primary vitreous of the developing eye
decreased noradrenaline level reduced amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine
abnormal ovulation aberration in the release of an ovum from a rupturing Graafian follicle, normally regulated by a surge in luteinizing hormone
abnormal embryo apposition any anomaly that prevents the initial positioning of the blastocyst trophoblast and uterine luminal epithelium causing the blastocyst to fail to orientate correctly along the uterine wall
abnormal portal lobule morphology any structural anomaly of the triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel
abnormal adrenal gland development aberrant formation or incomplete differentiation of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla
abnormal hair growth absence or reduced amount of hair or abnormal onset of hair growth cycle or development, or abnormal hair pattern
erythroblastosis presence of erythroblasts in great number in the blood
abnormal mitral cell morphology any structural anomaly of the large glutaminergic nerve cells whose dendrites synapse with axons of the olfactory receptor neurons in the glomerular layer of the olfactory bulb, and whose axons pass centrally in the olfactory tract to the olfactory cortex
increased lung non-small cell carcinoma incidence greater than the expected number of a heterogeneous aggregate of at least three distinct histological types of lung cancer, occurring in a specific population in a given time period
abnormal intestinal peristalsis altered intestinal movement characterized by waves of alternate circular contraction and relaxation of the muscular walls of the bowel that move bowel contents forward
increased interleukin-6 secretion increase in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts
decreased primordial germ cell number reduced number of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge
abnormal urinary bladder mucosa morphology any structural anomaly of the mucous membrane lining the urinary bladder
decreased midbrain size size reduction or truncation of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes
increased neurotransmitter release increased production or release of endogenous signaling molecules normally secreted by neurons that alter the behavior of neurons or effector cells
abnormal cns synapse formation any anomaly in the process of generating the initial connections between an axon and effector tissue or neuron
renal glomerulus atrophy acquired diminution of the size of the capillary loops of the kidney associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
abnormal nucleolus morphology any structural anomaly of the small rounded nuclear substructure that produces ribonucleoprotein
increased transitional stage t2 b cell number greater number of a type of a transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles
small l5 dorsal root ganglion reduced size of the L5 spinal ganglion
abnormal hepatoblast migration atypical migration of hepatoblasts across the basement membrane of the liver bud and/or invasion of the neighboring septum transversum mesenchyme
prolonged p wave increase in the length of time of the P wave electrical impulses, measured from the beginning to the end of the P wave
abnormal somite border morphology any structural anomaly of the anatomical surface separating somites; somite formation requires the physical separation of somitic tissue from the initially continuous presomitic mesoderm (PSM), coalescence of cells in the forming somite, and the establishment of a stable border between the somite and the PSM; when a somite forms in the anterior end of the PSM, an intersomitic boundary (also called a fissure, gap, or cleft) emerges, and it is rapidly followed by a mesenchymal-to-epithelial transition of cells that face a forming gap
absent anus absence of the lower opening of the digestive tract
bile duct hyperplasia Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.
lamellar cataracts a concentric lens opacity which is limited to layers of the cortex, affecting one lamella or zonule of an otherwise clear lens; usually congenital
increased monocyte cell number
abnormal ethmoidal bone morphology any structural anomaly of the midline facial bone that encloses the nasal cavity
abnormal liver triglyceride level aberrant concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liverower than normal concentration of triacylglycerols in the liver
increased susceptibility to age related obesity increased probability of excessive weight gain that is progressive with age
abnormal circulating erythropoietin level anomalous blood concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine
abnormal peyer's patch t cell area morphology any structural anomaly of the Peyer's patch area normally occupied by T lymphocytes
abnormal brown fat lipid droplet number anomaly in the number of the multiple small droplets of triglycerides found in brown adipocytes
decreased superior semicircular canal size small size of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance
abnormal pancreas secretion anomaly in the production and/or release of biologically active substances from pancreatic tissue
abnormal skeletal muscle mechanoreceptor morphology any structural anomaly of the receptors that respond to mechanical pressure or distortion in the skeletal muscle
decreased skeletal muscle fiber diameter decreased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge
osteomyelitis A bone inflammation disease that results_from infection located_in bone and located_in bone marrow.
impaired contextual conditioning behavior decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)
abnormal synaptic vesicle number anomaly in the number of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents
abnormal olfactory gland morphology any structural anomaly of the Bowman's glands (aka glands of Bowman, olfactory glands), situated in the olfactory mucosa, beneath the olfactory epithelium, in the lamina propria, a connective tissue also containing fibroblasts, blood vessels, and bundles of fine axons from the olfactory neurons; Bowman's glands consists of an acinus in the lamina propria and a secretory duct going out through the olfactory epithelium
abnormal spinal nerve morphology any structural anomaly of the any of the 31 paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment
abnormal bronchiole epithelium morphology any structural anomaly of the epithelial layer of the bronchioles
small clavicle reduced size of one or both of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula
abnormal erythroblast morphology any structural anomaly of the nucleated precursor of erythrocytes
tight skin
abnormal lacrimal gland development aberrant formation or incomplete differentiation of the paired almond-shaped glands, one for each eye, that secrete the aqueous layer of the tear film; each lacrimal gland develops through branching morphogenesis regulated by FGF signaling; at E12.5, the conjunctival epithelium at the temporal side of the mouse eyes invades the Fgf10-expressing mesenchyme to form the initial lacrimal gland bud; the bud elongates posteriorly until E15.5 when secondary branching begins to establish the complex tubuloalveolar structure; this eventually gives rise to the mature lacrimal gland composed of numerous ducts, acini and connective tissue
complete embryonic lethality between somite formation and embryo turning death of all organisms of a given genotype in a population between somite formation and the initiation of embryo turning (Mus: E8 to less than E9)
abnormal synaptic norepinephrine release aberrant secretion across synapses of this widespread central and autonomic neurotransmitter, the principal transmitter of most postganglionic sympathetic fibers and of the diffuse projection system in the brain arising from the locus ceruleus
cryptorchism Cryptorchidism (derived from the Greek κρυπτός, kryptos, meaning hidden and ὄρχις, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle.
craniofacial phenotype
abnormal kidney medulla morphology any structural anomaly of the inner portion of the kidney consisting of the renal pyramids
increased megakaryocyte cell number greater number of giant cells 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm
fibrillation asynchronous contraction or quivering of individual cardiac muscle fibers
enhanced behavioral response to cocaine increased sensitivity to cocaine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response
absent lateral semicircular canal absence of the lateral long bony tube of the labyrinth that is involved in the sense of balance
bicuspid pulmonary valve The presence of a bicuspid pulmonary valve.
abnormal submandibular lymph node morphology
abnormal antigen presentation aberration in the process by which by which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex
increased placenta weight increase in the weight of the organ of metabolic interchange between fetus and mother
decreased retinal photoreceptor cell number fewer than the expected number of rods and/or cones
abnormal photoreceptor outer segment morphology any structural anomaly of the photoreceptor region that is rich in the visual pigment rhodopsin
abnormal ventral body wall morphology any structural anomaly of the anterior portion of a human body or the lower surface of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity
bowed fibula increased curvature of the lateral and smaller bone of the lower limb
abnormal vestibular hair cell number abnormal number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear
abnormal penile bone morphology any structural anomaly of the unique bone located in the glans penis of most mammals except humans; it is used for copulation and varies in size and shape by species
decreased urine albumin level less than the normal amount of albumin in the urine
pituitary gland hypoplasia
abnormal st segment An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.
abnormal periodontal ligament morphology any structural anomaly of the fibrous connective tissue that surrounds the root of a tooth, separating it from and attaching it to the alveolar bone; normally extends from the base of the gingival mucosa to the fundus of the bony socket, and its main function is to hold the tooth in its socket
sinus bradycardia Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.
decreased hematopoietic stem cell number reduced cell count of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages
increased secondary ovarian follicle number greater than normal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers
abnormal epidermal layer morphology any structural anomaly of the superficial epithelial portion of the skin
parietal bone hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in the curved bone forming part of the vault of the cranium
decreased kidney apoptosis decrease in the number of cells of the kidney undergoing programmed cell death
decreased circulating bicarbonate level reduced concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood
abnormal interleukin-6 secretion anomaly in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts
abnormal foreskin morphology any structural anomaly of the loose fold of skin that covers the penis
abnormal glyceraldehyde-3-phosphate dehydrogenase (nad+) (phosphorylating) activity anomaly in the ability to catalyze the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD+ = 3-phospho-D-glyceroyl phosphate + NADH + H+
abnormal glial cell apoptosis change in the timing or the number of glial cells undergoing programmed cell death
increased birth weight increase in average weight at birth compared to controls
abnormal scapula morphology any structural anomaly of either or both of the large, flat bones of the back part of the shoulder
increased hepatoblast apoptosis increase in the number of hepatoblasts undergoing programmed cell death
partial loss of secondary muscle spindle missing a portion of the sensory organ in muscle; involved in the stretch reflex and is not sensitive to stretch velocity
conductive hearing impairment An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
decreased dentate gyrus size reduced size of one of two interlocking gyri of the hippocampus formation that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus
absent vertebral body absence of the main cylindrical portion of the vertebra ventral to the vertebral canal
otic hypertelorism greater than normal space between the outer ears
abnormal liver lobule morphology any structural anomaly of the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein
absent oviduct epithelium motile cilium absence of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the oviduct
enlarged tail bud increased size or area of the primordial region of the embryo that arises to form the tail of the adult
abnormal alveolocapillary membrane morphology any structural anomaly of the membrane between the capillary blood and alveolar air, comprised of the alveolar epithelium and the capillary epithelium and their adherent basement membranes and epithelial cell cytoplasm
reproductive system phenotype
abnormal t cell selection any anomaly in the process through which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation
tail telangiectases vascular lesion formed by dilation of a group of small blood vessels in the tail
upturned snout muzzle has a curve or tilt such that the tip points upwards
brain aneurysm
abnormal diencephalon morphology any structural anomaly of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex
abnormal total tissue mass aberrant physical bulk or volume of the body including lean body mass, fat body mass, and bone tissue
increased thoracic vertebrae number increased number of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae
abnormal pancreatic delta cell differentiation atypical production of or inability to produce the cells found in the pancreas that secrete somatostatin, and/or accumulation of pancreatic delta cell precursors
abnormal blood osmolality anomaly in the concentration of ions in the blood or blood fractions compared to the normal state, sometimes reported as increased or decreased osmotic fragility
abnormal somatosensory cortex physiology any functional anomaly of the area of the parietal lobe that lies posterior to the central sulcus and is concerned with receiving and processing general sensations from the body surface
abnormal spinal cord central canal morphology any structural anomaly of the ependyma-lined lumen of the spinal cord that is filled with cerebrospinal fluid; it is patent with the ventricular system of the brain and frequently becomes occluded in aging adults
decreased caudal vertebrae number reduced number of the bony segments of the tail or tail remnant
absent pulmonary vein absence of the veins that return oxygenated blood from the lungs to the left atrium of the heart
abnormal enteric cholinergic neuron morphology any structural anomaly of the neurons that utilize acetylcholine as a neurotransmitter and innervate the esophagus, stomach, small and large bowel
abnormal intestinal absorption any anomaly in the quantity or rate of any nutrient taken up from the contents of the intestine
abnormal hair follicle matrix region morphology any structural anomaly of the bulb region adjacent to the dermal papilla that contains rapidly proliferating matrix cells that give rise to the various cell lineages of the hair shaft and inner root sheath
abnormal sclerotome morphology any structural anomaly of the group of mesenchymal cells that emerge from the ventromedial part of a somite and migrate toward the notochord; normally, sclerotomal cells from adjacent somites become merged in intersomitically located masses that are the primordia of the centra of the vertebrae
prostate gland anterior lobe hyperplasia overdevelopment or increased size, usually due an increased number of cells in the anterior lobe of the prostate
increased renal fat pad weight greater than average weight of the encapsulated adipose tissue associated with the kidney
abnormal thymocyte apoptosis change in the timing or the number of immature T cells located in the thymus that are undergoing programmed cell death
abnormal kupffer cell morphology any structural anomaly of the phagocytic macrophages residing on the luminal surface of the hepatic sinusoids
small uterus reduced size of the female muscular organ of gestation
lymphoid hyperplasia overdevelopment or increased size, usually due to increased cell number, of lymphatic tissues
paternal effect expression of a phenotypic trait in a male animal's offspring that is dependent on the paternal genotype
decreased total body fat amount less than the normal total amount of connective tissue composed of fat cells within the entire body
abnormal agouti pigmentation amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is variably increased or decreased compared with a wild-type agouti pattern resulting in a range of coat color from yellow to almost black
altered susceptibility to osteoporosis a change in the likelihood that an organism will develop a reduction in bone mass or atrophy of skeletal tissue, usually accompanied by gross changes to bone matrix, leading to bone fragility
abnormal ovarian follicle morphology any structural anomaly of the sac-like structure in the ovary which surrounds an ovum
decreased circulating glucose level less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source
decreased paraxial mesoderm size reduced size or deficiency of the mesoderm lying at either side of the midline embryonic notochord that, on segmentation, forms the paired somites
bifid atrial appendage a cardiac anomaly whereby the left or right atrial appendage is cleaved, forming two separate pouches connected by a thin strand of muscular tissue
increased fibroblast cell migration greater frequency of or more rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium
abnormal cholangiocyte primary cilium morphology any structural anomaly of the primary cilia found on the epithelial cells of the bile duct and extending from their apical membrane into the ductal lumen
dilated pulmonary trunk the luminal space of the pulmonary trunk is increased in volume or area, usually with an increase of contained fluid
increased circulating interleukin-12b level increase in the amount in the blood of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23
abnormal lens epithelium morphology any structural anomaly in the one or more of the layers of epithelial cells in the lens
thin placenta labyrinth decrease in the width of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood
impaired humoral immune response impaired response of the immune system that mediates secreted antibodies produced in B cells
curly tail a loop or corkscrew-like curl in the tail
abnormal visceral endoderm physiology any functional anomaly of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut
abnormal pupil morphology any structural anomaly of the central circular aperture of the iris through which light rays enter the eye
twin decidual capsule two embryos share one decidual membrane
abnormal cd4-positive, alpha-beta memory t cell number anomaly in the number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high
abnormal trochlear nerve morphology any structural anomaly of the fourth cranial nerve, which normally carries the motor innervation of the superior oblique muscles of the eye
absent pancreatic alpha cells absence of the cells of the pancreas that secrete glucagon
abnormal placenta metrial gland morphology any structural anomaly in the group of granular epithelial cells in the uterine muscle beneath the placenta that develops during pregnancy in rodents and some other species, but not in primates
abnormal cremaster muscle morphology any structural anomaly of the thin layer of skeletal muscle that envelops the spermatic cord and testis of most male mammals in a series of loops; it is a continuation of the obliquus internus, arising from the inguinal ligament and inserting into the crest of the pubis and into the sheath of the rectus abdominis; it is innervated by the genital branch of the genitofemoral nerve and functions to draw the testis up toward the superficial inguinal ring in response to cold or to stimulation of the nerve; in females it is represented by only a few muscle loops that envelop the round ligament of the uterus
dilated vasculature stretched or widened aperture of the luminal space of the network of tubes that carries blood through the body
absent primordial ovarian follicles absence of the ovarian follicle in which the primary oocyte is surrounded by a single layer of flattened follicular cells; primordial follicles are indiscernible to the naked eye and develop to primary, secondary, and finally mature vesicular follicles
axial mesoderm hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord
abnormal paraventricular hypothalamic nucleus morphology any structural anomaly of a group of magnocellular neurons located in the periventricular zone of the anterior half of the hypothalamus
abnormal digestive secretion anomaly in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system
absent apical ectodermal ridge missing the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme
decreased igg2a level less than normal immunoglobulin class G2a level
leydig cell hyperplasia increased number of interstitial cells of the seminiferous tubules that secrete testosterone
abnormal nk cell number deviation in the number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells
decreased memory b cell number reduced number of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin
absent prostate gland missing gland in males that secretes part of the seminiferous fluid
eyelids fail to open eyes remain shut when eyelids are expected to be open
decreased cell migration reduced or slower movement of cells from one site to another, often occurring during developmental or chemotactic processes
embryonic lethality death of an animal within the embryonic period prior to organogenesis (Mus: prior to E14)
kidney inflammation
abnormal germinal center b cell physiology abnormal function of a rapidly cycling mature B cell which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes
meibomian gland atrophy acquired diminution of the size of the sebaceous glands embedded in the tarsal plate of each eyelid, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
double outlet right ventricle, taussig bing type a form of DORV in which blood from the left ventricle passes through a ventricular septal defect to the pulmonary artery, and blood from the right ventricle is directed to the aorta
increased food intake increase in the total number of calories/food amount taken in over time when compared to the normal state
decreased thyroxine level less than the normal concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism
absent hassall's corpuscle absence of the small spherical bodies of epithelial cells found in the medulla of the thymus, that are arranged in a concentric pattern around clusters of degenerating lymphocytes, eosinophils and macrophages
dilated aorta bulb the luminal space of the aorta bulb is increased in volume or area, usually with an increase of contained fluid
decreased susceptibility to infection induced morbidity/mortality reduced likelihood that an organism will display the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens
opisthotonus Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly.
abnormal somite development any anomaly in the formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo; somites are transient structures - balls or blocks of paraxial mesoderm cells with an epithelial outer layer and a mesenchymal cell core - that emerge sequentially through a mesenchymal-to-epithelial transition (MET) from the morphologically unpatterned presomitic mesoderm; they give rise to the metameric anatomy of the vertebral column itself, and the associated skin, muscle and tendons
impaired pupillary reflex
abnormal hair follicle development any anomaly in the development of the epidermis from which the hair shaft develops
mesangial cell hypoplasia decreased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft
abnormal epidermal-dermal junction morphology any structural anomaly of the multi-layer basement membrane between the dermis and epidermis that serves to adhere the dermis and epidermis, provide mechanical support for the epidermis, and forms a barrier to cells and large molecules across the junction
abnormal heart left ventricle weight anomaly in the average weight of the left ventricle compared to the control
abnormal peritubular capillary morphology any structural anomaly of the tiny blood vessels that receive blood from the efferent arterioles of the glomerulus, and interact with superficial cortical nephrons allowing reabsorption and secretion between blood and the inner lumen of the nephron; peritubular capillaries are situated around the tubule and are at low pressure
abnormal visual cortex morphology any structural anomaly of the area of the occipital cortex concerned with vision
abnormal inner hair cell synaptic ribbon morphology any structural anomaly in the presynaptic active zone of mature cochlear IHCs which usually contain a single synaptic ribbon, i.e. a submicrometer, electron-dense structure tethering synaptic vesicles; each spiral ganglion neuron receives input from only one IHC synapse
ovary degeneration a retrogressive impairment of function or destruction of one or both ovaries
prostate gland hyperplasia overdevelopment or increased size, usually due an increased number of cells in the prostate
abnormal tooth root development aberrant or incomplete formation of the part of a tooth that is implanted in the gum; the root is normally located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone
absent podocyte foot process absence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries
polydipsia Excessive thirst manifested by excessive fluid intake.
thick dermal layer increased depth of the dermis
increased osteoclast cell number greater than average number of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue
liver hypoplasia underdevelopment or reduced size of the liver, usually due to a reduced number of cells,
abnormal cytokine level deviation from the normal levels of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells
abnormal branching involved in trachea morphogenesis anomaly in the process in which the two main branches of the trachea is generated and organized
abnormal pancreatic beta cell differentiation atypical production of or inability to produce the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas, and/or accumulation of pancreatic beta cell precursors
abnormal avoidance learning behavior anomaly in the ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus
abnormal fatty acid level any anomaly in the concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated
abnormal body size anomaly in the average body weight, height and/or length of an organism compared to controls
abnormal follicle stimulating hormone level anomalous concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis
abnormal alveolar lamellar body morphology any structural anomaly of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant
abnormal sleep behavior any anomaly in the actions, reactions, or performance of an organism during a periodic, readily reversible state of reduced awareness and metabolic activity
absent liver absence of the bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage
abnormal aorta morphology any structural anomaly of the main trunk of the systemic arterial system that originates from the base of the left ventricle of the heart and extends to the abdomen at the point where it branches into the common iliac arteries
thin myocardium reduced thickness of the cardiac muscle layer
prominent ears Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
decreased hepatocyte number fewer than normal number of parenchymal liver cells
abnormal frontal plane axis any anomaly found in the sum of all electrical currents in the heart during systole
decreased physiological sensitivity to xenobiotic increase in the dose or concentration of a foreign compound required to induce a specific level of physiological response
palatine bone hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in either of either of two irregularly L-shaped bones located posterior to the maxilla that in part forms the back of the hard palate, part of the nasal cavity and part of the floor of the orbits
abnormal keratinocyte apoptosis aberrant programmed cell death or anomaly in the number of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum
dilated endolymphatic sac stretched or widened aperture of the luminal space of the endolymphatic sac
decreased cranial neural crest cell proliferation reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division
abnormal cerebellum white matter morphology
abnormal urine nucleoside level any change in the urinary level of glycosylamines consisting of a nucleobase bound to a ribose or deoxyribose sugar via a beta-glycosidic linkage, including cytidine, uridine, adenosine, guanosine, thymidine and inosine and deoxynucleosides
absent pinna reflex complete failure to respond to an auditory stimulus by a characteristic ear twitch
increased presacral vertebrae number greater number of the vertebrae anterior to the sacrum
abnormal tongue epithelium morphology any structural anomaly of the epithelial layer of the tongue
abnormal orbitofrontal cortex morphology any structural anomaly of the region of the cerebral cortex covering the basal surface of the frontal lobes; this region normally controls emotion and decision making
abnormal enterocyte physiology any functional anomaly of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen
increased chromosomal stability decrease in the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an reduced rate of loss of heterozygosity
abnormal associative learning anomaly in the ability to change the frequency or form of a behavior as a result of the influence of the environment
prevertebral ganglia hyperplasia overdevelopment or increased size, usually due to increased cell number, of the sympathetic ganglia located in front of the vertebral column and are associated with the major branches of the abdominal aorta; these include the celiac, aorticorenal, superior and inferior mesenteric ganglia
abnormal epidermis stratum corneum morphology any structural anomaly of the outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells
increased skeletal tumor incidence greater than the expected number of neoplasms in the skeletal tissue, usually in the form of a distinct mass, in a specific population in a given time period
decreased exploration in new environment less amount of time spent investigating a new location
abnormal olfactory bulb outer nerve layer morphology any structural anomaly of the outermost layer of the olfactory bulb; consists primarily of olfactory afferent axons and ensheathing glia
coronary fistula
aminoaciduria An increased concentration of an amino acid in the urine.
abnormal epididymal fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the epididymis
ectopic pituitary gland a pituitary gland located outside of its normal position
abnormal axial mesoderm failure or abnormality in the formation of part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord
abnormal carotid body morphology any structural anomaly of a small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control
abnormal supraoptic nucleus morphology any structural anomaly of a group of cells in the hypothalamus located over the lateral border of the optic tract; neurons produce and transport vasopressin
delayed head development late onset of the induction and/or differentiation of the head
aortic hypertrophy increase in the bulk size of the aorta
abnormal spinal cord ventral horn morphology any structural anomaly of the ventral grey column of the spinal cord
delayed skin barrier formation slowed progression in the establishment of the ability of the skin to regulate water loss
decreased mammary gland epithelium proliferation decrease in the expansion rate of the cells of the mammary gland epithelium by cell division
abnormal interleukin-15 secretion anomaly in the production or release of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2
absent rhombomere 3 absence of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order
abnormal uterine nk cell morphology any structural anomaly of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy
absent rhombomere 5 absence of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order
hypopituitarism Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.|A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.
abnormal conotruncus morphology any structural anomaly of the distal portion of the bulbus cordis that will give rise to the conus cordis, which will give rise to the outflow regions of the ventricles, and the truncus arteriosus which will be divided into proximal ends of the ascending aorta and pulmonary trunk
herniated seminal vesicle protrusion of the seminal vesicles through the pelvic outlet
palatal shelf fusion with tongue or mandible palatal shelves do not elevate during development and instead fuse with tongue tissues or with the mandible tissues
absent limb buds missing the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs
abnormal pulmonary alveolus epithelium morphology any structural anomaly of the epithelial layer of the alveoli
increased urine calcium level
abnormal motile cilium physiology any structural anomaly of a cilium which has a variable arrangement of axonemal microtubules, contains molecular motors, and beats with a characteristic whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface; motile cilia are typically found in multiple copies on epithelial cells that line the lumenal ducts of various tissues and may also function as sensory organelles
dilated heart ventricle the luminal space of the lower chambers of the heart is increased in volume or area, usually with an increase in contained fluid
abnormal heart development aberrant formation or incomplete differentiation of the heart
decreased tympanic ring size smaller than average tympanic ring
abnormal circulating phospholipid level any anomaly in the concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group
abnormal level of surface class i molecules deviation from the normal concentration of major histocompatibility complex class I molecules expressed at the cell surface
increased circulating phosphate level
abnormal mandibule ramus morphology any structural anomaly of the upturned perpendicular extremity of the mandible
decreased myocardial infarction size decreased size of necrotic area from normal of the myocardium resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors
increased brain tumor incidence greater than the expected number of abnormal rapidly proliferating cells in the brain, usually in the form of a distinct mass, occurring in a specific population in a given time period
abnormal stratum corneum lipid matrix formation altered lipid composition or intercellular lipid matrix assembly in the stratum corneum, usually resulting in loss of epidermal barrier function; normally, the intercorneocyte lipid matrix consists of a complex lipid mixture of ceramides, cholesterol and long-chain saturated fatty acids that self-assembles into an ordered multilayer structure known as lipid lamellae
obstructive hydrocephaly
pancreas hypoplasia
absent zona pellucida missing the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation
decreased superior colliculus size decreased size of the paired superior eminence of the mesencephalic tectum
decreased diastolic filling velocity reduction in the rate of fluid inflow to the heart during diastole compared to controls; usually measured in the left ventricle; altered filling velocity often contributes to various cardiovascular disorders
abnormal autophagy abnormal catabolic process involving the degradation of a cell's own components through the lysosomal machinery
abnormal choroid melanocyte morphology any structural anomaly of the cells that produce pigment in the choroid
enlarged mesenteric lymph nodes increased size of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group
coarse hair Hair shafts are rough in texture.
abnormal circulating gastrin level anomalous concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters
abnormal vertical vestibuloocular reflex any anomaly in the nystagmus or deviation of the eyes in response to stimulation along the vertical axis of the vestibular system
nuchal edema abnormal accumulation of subcutaneous fluid in the nuchal region i.e. at the back of the neck
reduced cerebellar foliation the cerebellar lobules are reduced in size or number
gonial bone hypoplasia underdevelopment or reduced size of the investing bone that lies on the surface of the malleus, usually due to reduced cell number
increased erythrocyte clearance increased elimination of aging erythrocytes from the body by autoregulatory mechanisms, often expressed as half-life
abnormal placenta intervillous maternal lacunae morphology any structural anomaly of the spaces of the placenta occupied by maternal blood, into which the fetal labyrinth villi project
abnormal head shape any anomaly in the characteristic surface outline or contour of a head of an organism
decreased urine nitrite level lower than normal amount of nitrite (NO2-) in the urine; suggestive of impaired nitric oxide (NO) release
abnormal limb mesenchyme morphology any structural anomaly in the primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells
abnormal post-tetanic potentiation defects in the size or duration of potentials that persist after tetanic stimulation of central synapses
small vestibular ganglion reduced size of the vestibular ganglion or of the sensory neuron cell bodies associated with the eighth cranial nerve
flaky skin shedding flakes on the skin
abnormal wallerian degeneration any anomaly in the process of progressive degeneration of axons distal to an injury
double outlet right ventricle with atrioventricular septal defect a form of DORV in which there is also a complete atrioventricular canal
sweet preference subjects demonstrate predilection for sweet tasting substances over other offered substance
abnormal gut-associated lymphoid tissue morphology any structural anomaly of the regional immune system located in the gut
decreased granulocyte number
abnormal serotonergic neuron morphology any structural anomaly of the neurons that secrete serotonin
abnormal discrimination learning anomaly in the ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus
prolonged pr interval Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).
orotic acid urinary bladder stones presence of caliculi, or a solid concretion or crystal aggregation formed from orotic acid, found in the urinary bladder; often embedded in a glycoprotein matrix which may also contain some nonglycoproteins when associated with infection
abnormal effector memory cd4-positive, alpha-beta t cell number anomaly in the number of a CD4-positive, alpha-beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative
ear lobe hypoplasia
abnormal trachea morphology any structural anomaly of the tube descending from the larynx and branching into the right and left main bronchi
abnormal monocyte cell number any deviation in the count of the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood
bruising an injury to biological tissue in which the capillaries are damaged, allowing blood to seep into the surrounding tissue; it should not be confused with ecchymosis, though the terms are related
decreased excitatory postsynaptic current amplitude reduction in the size (height or maximum displacement) of the evoked excitatory postsynaptic current wave
abnormal innervation pattern to muscle any changes in the placement, morphology or number of sensory, sympathetic or motor nerves to targets in muscle
muscle hypertonia
abnormal tail position or orientation tail is displaced from the normal location and/or does not orient in a typical pattern
stomach smooth muscle circular layer hypertrophy increase in the bulk size of the middle layer of the muscularis due to cell enlargement or accumulation of fluids
abnormal pharyngeal arch mesenchyme morphology any structural anomaly in the primordial embryonic connective tissue associated with the branchial arches, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to facial and cranial nerve-associated structures
pillar cell degeneration degeneration or loss of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti
fused cornea and lens condition in which the transparent anterior portion of the fibrous coat of the eye is joined to the transparent biconvex cellular refractive structure lying between the iris and vitreous humor of the eye
increased circulating estrogen level greater than normal blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics
decreased somatotroph secretory granule number decreased number of vesicles derived from the golgi that contain somatotropin growth hormone to be released at the cell surface
stomach fundus hypertrophy increase in the bulk size of the stomach fundus due to cell enlargement or accumulation of fluids
retinal ischemia
abnormal vitamin c level any anomaly in the concentration of L-ascorbic acid (vitamin C), which is a common co-factor and has anti-oxidant activities in many species
loss of basal ganglia neurons loss of neurons in the basal ganglia of the brain, commonly due to an apoptotic event
abnormal intestinal cholesterol absorption any anomaly in the ability of the body to take up cholesterol into the blood by absorption from the small intestine
abnormal coccyx morphology any structural anomaly of the rostral-most segment of the vertebral column that is formed by the fusion of three to five coccygeal vertebrae in adult humans and tailless primates
absent inner hair cell kinocilia absence of the nonmotile primary cilium that is found at the apical surface of inner hair cells
dilated renal glomerular capsule stretched or widened aperture of the expanded beginning of a nephron that contains the glomerulus
postnatal lethality premature death anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)
conotruncal ridge hypoplasia underdevelopment or reduced size of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum
abnormal septum pellucidum morphology any structural anomaly of the thin, triangular, vertical membrane separating the anterior horns of the left and right lateral ventricles of the septum, which has strong projections to hypothalamic and midbrain regions and receives projections from the hippocampus and amygdala
vestibular saccular degeneration degeneration or loss of the smaller of the two sacs in the vestibule
acrania
enhanced lipolysis increase in the rate of the hydrolysis of fat into free fatty acids
failure of blastocyst formation inability to form a blastocyst from a solid ball of cells known as a morula
vitreous body inflammation local accumulation of fluid, plasma proteins, and leukocytes in the vitreous body
abnormal septation of the cloaca absence of or reduction in the separation of the single opening of the digestive, urinary, and reproductive tracts (cloaca) into multiple isolated openings during development, may result in hypospadia, reduced anogenital distance, or persistent cloaca
perivascular fibrosis invasion of fibrous connective tissue into the perivascular tissue, often resulting from inflammation or injury
absent bone marrow cell lack of cells that make up the core cavities of bones
abnormal small intestine placement different location or arrangement of the small intestinal tract
abnormal ventral commissure morphology any structural anomaly of the fiber tracts that connect the ventral region of the two cerebral hemispheres and span the longitudinal fissure, including the anterior and the habenular commissures
abnormal aortic arch morphology any structural anomaly of the convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery
orthokeratosis thickening of the stratum corneum of the epidermis (hyperkeratosis) with non-nucleated keratinocytes retained in this layer
adenohypophysis hypoplasia underdevelopment or reduced size, usually due to a reduced cell number, of the anterior lobe of the pituitary gland
abnormal abdominal lymph node morphology any structural anomaly of the visceral glands that are located in the abdomen
delayed allantois development late onset of development of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels
abnormal brown fat cell morphology any structural anomaly of cells from the thermogenic form of adipose tissue found in newborns of many species, including humans, and in hibernating mammals; brown fat is capable of rapid liberation of energy and seems to be important in the maintenance of body temperature immediately after birth and upon waking from hibernation; brown adipocytes contain multiple small droplets of triglycerides and a high number of mitochondria
increased total tissue mass increased physical bulk or volume of the body including lean body mass, fat body mass, and bone tissue
impaired cellular glucose import reduced ability of a cell to take in glucose from the environment
abnormal ciliary ganglion morphology any structural anomaly of the parasympathetic ganglia in the orbit behind the eye that receives preganglionic innervation through the oculomotor nerve
decreased glucokinase activity reduced ability to catalyze the reaction: ATP + D-glucose = ADP + D-glucose-6-phosphate
pulmonary necrosis morphological changes resulting from pathological death of pulmonary tissue; usually due to irreversible damage
abnormal hemoglobin Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.
increased renal plasma flow rate greater than the normal volume of plasma passing through the kidney per unit time
heterotaxia A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
dilated kidney calyx an expansion in the lumen volume or area of any of the branches of the renal pelvis that surround each renal papilla and collect urine
increased urine chloride ion level
embryonic-extraembryonic boundary constriction an invagination or pinching in the visceral endoderm that is centered at the boundary between embryonic and extra-embryonic regions of the developing embryo, often resulting in physical separation of embryonic and extraembryonic ectoderm
abnormal eye anterior chamber morphology any structural anomaly of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens
sinoatrial block Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria.
decreased igg1 level less than normal immunoglobulin class G1 level
abnormal t cell receptor beta chain v(d)j recombination any anomaly in the process by which V, D, and J segments of the T cell receptor beta chain are recombined
abnormal gastric gland morphology any structural anomaly of any of the branched tubular glands in the mucosa of the fundus and body of the stomach that contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin
abnormal skin adnexa morphology any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails
increased circulating phospholipid level greater concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group
kidney cysts
pulmonary hypertension Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.|A syndrome with pathological changes in the pulmonary arteries and impaired PULMONARY CIRCULATION that can be the result of PULMONARY HYPERTENSION. Ayerza syndrome is characterized by slowly developing ASTHMA; BRONCHITIS; DYSPNEA; and CYANOSIS in association with POLYCYTHEMIA.
abnormal coronary circulation any anomaly in the circulation of blood through the vessels that supply the heart
increased skeletal muscle glycogen level greater than the normal concentration of a readily converted carbohydrate reserve in skeletal muscle
abnormal purkinje cell morphology any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells
abnormal heart valve morphology any structural anomaly of the membranous folds of the heart that prevent reflux of fluid
absent neurocranium missing bones of the skull enclosing the brain
abnormal type ii spiral ligament fibrocytes any structural anomaly of type II spiral ligament fibrocytes found in the suprastrial zone and the central area of the spiral ligament beneath the spiral prominence
supravalvar pulmonary trunk stenosis diffuse constriction or narrowing of the pulmonary trunk distal to the pulmonary valve
thick aortic valve cusps an increase in the ratio of the aortic valve cusp thickness to the aortic wall thickness
abnormal pain threshold increased or decreased average level of perception of pain
nonsyndromic hearing loss An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.
abnormal type iv spiral ligament fibrocytes any structural anomaly of type IV spiral ligament fibrocytes found in the triangular space inferior to the basilar crest
abnormal igg1 level deviation from the normal levels of immunoglobulin class G1 level
abnormal blood ph regulation anomaly in the function of the buffer systems of the blood in combination with the respiratory and renal systems that control the relative acidity or alkalinity of the blood, as measured by the concentration of the hydrogen ion
abnormal t-helper 2 cell number anomaly in the number of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy
absent humerus Missing humerus bone associated with congenital failure of development.
prenatal growth retardation An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
failure of myelopoiesis missing the process of bone marrow cell formation and/or the formation of bone marrow-derived blood cells
abnormal epidermis stratum basale morphology any structural anomaly of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells
abnormal sternebra size atypical size of any of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum
abnormal vestibular ganglion morphology any structural anomaly of the group of neurons associated with the vestibular part of the eighth cranial nerve that are involved in equilibration
mesangiolysis an injurious glomerular process that affects primarily the mesangium, starting with loosening and detachment of its matrix and progressing to dissolution/attenuation with degeneration of mesangial cells; mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis
abnormal cochlear nerve compound action potential anomaly in the combined potentials resulting from activation of the auditory division of the eighth cranial nerve; these potentials represent the summed activity of multiple cochlear afferent fibers discharging synchronously and thus assess the combined functional state of OHCs, IHCs, and their primary afferent innervation
abnormal myeloid dendritic cell morphology any structural anomaly of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses
abnormal voluntary movement anomaly in coordinated movements executed with a purpose and can be improved by learning and/or experience
abnormal telomere morphology any structural anomaly of the terminal repetitive DNA section of a chromosome which is involved in chromosomal replication and senescence, and which protects the end of the chromosome from deterioration
absent pterygoid muscle absence of either the internal or external or of both pterygoid muscles
increased bone strength increased ability of bone to endure the application of force without yielding or breaking
small petrosal ganglion reduced size of the lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve
small superior cervical ganglion reduced size of the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck
abnormal cochlear hair cell stereociliary bundle morphology any structural anomaly or disruption of the typical pattern of arrangement of mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of cochlear inner and outer hair cells
increased cholangiocyte apoptosis increase in the number of epithelial cells of the bile duct undergoing programmed cell death
absent dermatome absence of the mesoderm that is derived from the somite that is fated to become the dermis
abnormal heart electrocardiography waveform feature
increased lymph node number greater than the normal number of lymph nodes
abnormal lateral ventricle morphology any structural anomaly of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle
shiny skin skin with a glossy or glistening appearance
increased klrg1+ cd4 alpha beta t cell number increase in the number of CD4+ alpha beta T cells that express KLRG1, a marker of effector/memory and regulatory T cells
increased compact bone area increase in the total amount of cross-sectional area of compact bone tissue
abnormal bergmann glial cell differentiation abnormal formation of the astrocyte-type glia cells associated with Purkinje cells in the cerebellum
abnormal interleukin-2 secretion anomaly in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes
hydroureter The distention of the ureter with urine.
abnormal granulosa cell morphology any structural anomaly of a supporting cell for the developing female gamete in the ovary of mammals; granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle
loose skin A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs.
embryonic lethality during organogenesis death anytime between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
parotid gland inflammation
small ectoplacental cone reduced size of the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta
decreased t helper 1 cell number reduced number of the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity
decreased circulating interleukin-18 level reduction in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity
thin zona pellucida reduced thickness of the solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation
cricoid and tracheal cartilage fusion union of the cricoid cartilage and one or more of the tracheal rings into one structure, when this fusion does not normally occur
urolithiasis presence of calculi in any part of the urinary system
increased cranial neural crest cell apoptosis increased number of cranial neural crest cells (NCCs) undergoing programmed cell death
abnormal nail plate morphology any structural anomally of the hard and translucent portion of the nail, composed of keratin, which serves to protect the tips of digits
abnormal induced cell death anomaly in the response to an agent that induces cessation of function at the cellular level
abnormal late pro-b cell any structural anomaly of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain
abnormal accessory nerve morphology any structural anomaly of the eleventh cranial nerve, which normally originates from neurons in the medulla and in the cervical spinal cord
decreased vascular endothelial cell number less than normal number of cells lining the vasculature
absent cerebellar lobules missing lobes of the cerebellum
short lumbar vertebrae reduced length of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae
xanthoma
abnormal neuronal migration An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.
abnormal inhibitory postsynaptic potential defect in the membrane potential detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization
absent sternum missing long flat bone of the chest; articulates with clavicle and first seven rib pairs
abnormal embryo turning atypical axial rotation of the germ layers of the embryo during the primitive streak/early somite stage during which the curvature of the entire trunk region is normally reversed and the neural ectoderm moves to the convex region and the midgut region becomes located in the concave region
decreased susceptibility to age related obesity reduced probability of excessive weight gain that is progressive with age
increased partial thromboplastin time
abnormal pancreas size A deviation from the normal size of the pancreas.
abnormal interdental cell morphology any structural anomaly of the long, spindle-shaped cells arranged in parallel rows, oriented with their vertical axis perpendicular to the luminal surface of the spiral limbus; they secrete potassium ions into the endolymph and secrete the tectorial membrane
enlarged thoracic cavity increased size of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway
abnormal vagal neural crest cell morphology any structural anomaly of the neural crest cells (NCCs) that arise from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7 (the cranial part of the vagal level overlaps the caudal part of the cranial level, as the first few somites form adjacent to the rhombencephalon, not the spinal cord); the vagal neural crest produces the neurons and glial cells of the enteric nervous system (ENS); like NCCs from other axial levels, the vagal neural crest contributes to the neurons and glial cells of the peripheral nervous system and the melanocytes that populate the skin
impaired branching involved in bronchus morphogenesis partial or complete failure of the process in which the branched structure of the bronchus is generated and organized
abnormal t-helper 2 cell morphology any structural anomaly of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy
increased interleukin-23 secretion increase in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells
abnormal immunoglobulin v(d)j recombination any anomaly in the process by which immunoglobulin V, D, and J or V and J gene segments, depending on the specific locus, are recombined within a single locus
thick epidermis stratum basale increased thickness of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells
decreased trabecular bone mass reduced total amount of trabecular bone tissue contained in the skeleton
decreased birth body size reduction in average body size at birth compared to controls
abnormal circulating interleukin level anomaly in the amount in the blood of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types; they enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli
enlarged kidney larger than average size of the kidney
decreased transitional stage t1 b cell number reduced number of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative
abnormal coat/hair pigmentation irregular or unusual pigmentation of the hair
abnormal chromosome number chromosome count is other than the expected diploid chromosome number
abnormal piriform cortex morphology any structural anomaly of the subdivision of the laminated olfactory cortex with only three main layers that receive monosynaptic input from the olfactory bulb via the lateral olfactory tract; it is located bilaterally in the ventrolateral forebrain and is commonly divided into anterior and posterior regions
coiled cecum corkscrew or worm-like appearance of the large sac at the ileum and large intestine junction
abnormal fetal cardiomyocyte proliferation anomaly in the ability of the differentiating cardiac muscle cell population to undergo expansion by cell division
abnormal platelet activation anomaly in the series of progressive, overlapping events triggered by exposure of platelets to signals from subendothelial tissue, including shape change, adhesiveness, aggregation, and release reactions; when carried through to completion, these events lead to the formation of a stable hemostatic plug
heart valve hyperplasia overdevelopment or increased size, usually due an increased number of cells of the heart valves
distended pericardium an expansion in the volume of the sac-like structure contained by the outer parietal layer of the pericardium
decreased lung elastance reduced ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance
no abnormal phenotype detected normal, viable and fertile appearance and behavior; reported phenotype is indistinguishable from controls
abnormal prostate gland epithelium morphology any structural anomaly of the prostate epithelium
renal hypoplasia Hypoplasia of the kidney.
increased bronchioalveolar stem cell number greater numbers of a respiratory stem cell found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury
rudimentary wolffian ducts not fully developed or remnants of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male
abnormal subendocardium layer morphology any structural anomaly of the layer of loose fibrous tissue located between the endocardium and myocardium which contains the nerves and the impulse-conducting system (Purkinje fibers) of the heart
delayed blastocyst hatching from the zona pellucida the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation, occurs later in development than expected
abnormal auditory cortex tonotopy any abnormality in the spatial arrangement of structures that subserve various frequencies in the region of the cerebral cortex that receives the auditory radiation from the medial geniculate body
excessive folding of visceral yolk sac the appearance of wrinkles or folds on the surface of the visceral yolk sac
abnormal ischium morphology any structural anomaly of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis
subcapsular cataracts A cataract that affects the region of the lens directly beneath the capsule of the lens.
abnormal omental fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon
increased clara cell number increased numbers of the rounded, club-shaped, nonciliated cells found between ciliated cells in bronchiolar epithelium
failure of zygotic cell division inability of a fertilized oocyte to initiate or complete early cell divisions
abnormal adrenal medulla morphology any structural anomaly of the inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine
decreased alpha-beta t cell number reduced number of T cells that expresses an alpha-beta T cell receptor complex
small vulva decreased size of the external genitalia of the female
increased nucleated erythrocyte cell number presence of increased numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells
prolonged qt interval increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave
abnormal hippocampus morphology any structural anomaly of the deep lying structure of the cerebrum involved with memory storage and spatial navigation
abnormal sulcus ampullaris morphology any structural anomaly of the transverse groove on the membranous amupulla of each semicircular duct, where the nerve enters the ampullary crest
abnormal type i spiral ligament fibrocytes any structural anomaly of type I spiral ligament fibrocytes which occupy the region beneath the stria vascularis
abnormal spermatid morphology any structural anomaly of the male germ cells that without further cell division give rise to mature spermatozoa
iodide oxidation defect thyroid defect in oxidation and organification of iodide
small pancreatic islets decrease in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas
decreased body weight
abnormal vestibular hair cell morphology any structural anomaly of the mechanoreceptor cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear; afferent and efferent nerve fibers of the vestibular nerve end synaptically on them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the statoconial membrane of the maculae and the cupula of the cristae
abnormal placental labyrinth villi morphology any structural anomaly of the vascularized and branched structures arising from the rodent trophoblast-derived epithelium that allow an increase its surface area for the efficient exchange of nutrients and wastes between the maternal and fetal circulation
abnormal hair follicle morphology any structural anomaly of the invagination of the epidermis from which the hair shaft develops
abnormal sodium ion homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of sodium ions within the body or between a cell and its external environment
abnormal aqueous drainage system morphology any structural anomaly of the structures associated with drainage of the aqueous humor from the eye, that include the trabecular meshwork, Schlemm's canal, the uveoscleral network, and the aqueous veins
lung hemorrhage bleeding within the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs
abnormal type ii hypersensitivity reaction anomaly in the response caused by an Ag-Ab reaction; antibodies are directly or indirectly cytotoxic to antigens on cell surfaces or in connective tissues; most often involves IgG and IgM; complement activation is usually involved
absent basisphenoid bone absence of the part of the base of the cranium found between the basioccipital and the presphenoid bone
abnormal blood-inner ear barrier function anomaly in the function of the group of barriers and transport systems which regulate the transport of various substances from blood to inner ear tissue and maintain the microhomeostasis and functional integrity of the inner ear; the endothelial cells of the inner ear blood capillaries, linked to each other by tight junctions, represent the main component of the blood-inner ear barrier
decreased urine ph increased urine acidity
abnormal developmental patterning abnormal systematic arrangement of the developing body along an axis
unidirectional circling circling behavior in one direction only, either clockwise or counterclockwise
abnormal spleen primary b follicle morphology any structural anomaly of the nodules of small undifferentiated B lymphocytes and follicular dendritic cells located in the spleen white pulp
periinsulitis an accumulation of macrophages, dendritic cells, and B and T lymphocytes in the periductal areas of the pancreas but outside the islet cell areas; often occurs prior to intra-insulitis of the islet cell areas
abnormal retrotrapezoid nucleus morphology any structural anomaly in the loose collection of neurons that reside in the rostral medulla close to the medullary surface, ventral and immediately caudal of nVII, that are crucial for CO2 sensing in the brain
abnormal cochlear nerve fiber response anomaly in the electrophysiological recordings from a single or several auditory nerve fiber(s)
alisphenoid bone hypoplasia underdevelopment or reduced size in either of the broad curved wing like expanses on each side of the sphenoid bone in adults, usually due to reduced cell number; this bone may exist independently in the young
small thyroid gland reduced size of the endocrine gland located in the front and to the sides of the upper part of the trachea, and which secretes thyroid hormone and calcitonin
abnormal secondary ovarian follicle morphology any structural anomaly in the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers
abnormal heart and great vessel attachment any anomaly in the in the position or pattern of the connection site of the heart to any of the primary vessels, including the superior vena cavae, inferior vena cavae, pulmonary artery, pulmonary veins, and aorta
abnormal neurohypophysis development aberrant formation or incomplete differentiation of the posterior lobe of the pituitary gland which develops as a neurohypophyseal bud, a depression in the neuroectoderm of the floor of the hypothalamus; the infundibulum, another diverticulum from the inferior aspect of the diencephalon, develops as an outgrowth of the neurohypophyseal bud and connects the neurohypophysis to the hypothalamus; the neurohypophysis develops as the infundibulum grows inferiorly from the diencephalon to meet the developing adenohypophysis (anterior pituitary lobe); the fully developed neurohypophysis consists of the infundibulum and the pars nervosa; the neural connection between the hypothalamus and pars nervosa is through the hypothalamohypophyseal tract that develops within the infundibulum
abnormal duvet hair morphology any structural anomaly of the fine under hair of the coat
small lymphoid organs reduced size of lymphatic tissues
increased number of howell-jolly bodies abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in individuals with functional hyposplenia or asplenia
abnormal oviduct size anomaly in the average size of the tube through which the ova pass from the ovary to the uterus
increased cell chemotaxis increase in the directed movement response of a motile cell guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis)
abnormal emotion/affect behavior An abnormality of emotional behaviour.
absent nasal septum Lack of the cartilage of the nasal septum.
abnormal crista ampullaris neuroepithelium morphology any structural anomaly in the specialized sensory hair cells of the ampullary crest of the ampulla of each semicircular duct
autoimmune response condition in which cells and/or antibodies arise from and are directed against one's own tissues
abnormal collagen level abnormal level of the main structural protein of the various connective tissues in animals
sporadic seizures occasional seizures occurring at irregular intervals
abnormal metopic suture morphology any structural anomaly of the dense, fibrous connective tissue joint between the frontal bone from the sagittal suture to the root of the nose; it is visible in neonates and juveniles, but it is frequently obliterated in some adult organisms
abnormal substantia nigra pars compacta morphology any structural anomaly of the posterior (dorsal) part of grey matter of the substantia nigra which contains large, polygonal, and densely packed dopamine-producing cells; pars compacta neurons are pigmented in many species
vascular smooth muscle cell hypoplasia decreased numbers of smooth muscle cells in the vascular wall
alpha-synuclein inclusion body formation of aggregates of the alpha-synuclein protein in neural and glial tissue; often seen in neurodegenerative disorders such as Parkinson's disease
abnormal alpha-beta t cell number aberrant number of T cells that expresses an alpha-beta T cell receptor complex
decreased lactotroph cell number reduced number of an acidophilic cell of the anterior pituitary that produces prolactin
abnormal renal corpuscle morphology any structural anomaly of the structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron
abnormal interleukin-4 secretion anomaly in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells
abnormal incisor morphology any structural anomaly of the teeth, normally consisting of two pairs, top and bottom, of the long teeth that are the most anterior and prominent in the jaw
decreased lung weight reduced average weight of the lung
enlarged lymphatic vessel increased size of the network of vessels which carries lymph around the body
decreased surfactant secretion decreased production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli
preweaning lethality death anytime between fertilization and weaning age (Mus: approximately 3-4 weeks of age)
salt-resistant hypertension sustained high blood pressure that is maintained regardless of the amount of salt consumed in the diet
abnormal gonadotroph morphology any structural anomaly of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH)
kinked neural tube twists or kinks in the embryonic neural tube
heart left ventricle outflow tract stenosis abnormal constriction or narrowing of the portion of the left ventricle through which blood normally flows into the aorta
abnormal urine nitrite level anomaly in the amount of nitrite (NO2-) in the urine; may be suggestive of impaired nitric oxide (NO) release, or of a urinary tract infection
abnormal seminal vesicle development aberrant or incomplete differentiation of either of the paired sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system; seminal vesicles develop from the segments of the Wolffian ducts immediately adjacent to the urogenital sinus
abnormal bile duct physiology any functional anomaly of the channels that secrete bile from the liver to the gall bladder and intestines
thin apical ectodermal ridge decrease in the thickness of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme
anophthalmia Absence of the globe or eyeball.
abnormal basicranium angle a deviation from the expected angle formed by a line representing the floor of the anterior cranial fossa intersecting a line representing the axis of the clivus of the base of the skull
increased embryonic epiblast cell apoptosis increase in the number of embryonic epiblast cells undergoing programmed cell death
small interparietal bone reduced size of the bone of the cranium that lies above and anterior to the occipital bone in some mammals
increased mast cell degranulation increase in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell
abnormal lip shape changes in the characteristic contours of the fleshy margins of the mouth
isolation of the left subclavian artery the loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus
abnormal sour taste sensitivity changes in the ability to perceive a particular flavor or suggestion of something sour by the chemoreceptors of the gustatory system
decreased aerobic running capacity reduced ability to run at defined speeds and/or distances compared to controls
abnormal frontal lobe morphology any structural anomaly of the anterior part of the cerebral hemisphere
abnormal coronal suture morphology any structural anomaly of the dense, fibrous connective tissue joint between the parietal bones and the frontal bone
abnormal hair cortex keratinization any defect in the formation of the fibrous elements found in the hair cortex comprising acidic (Type I ) and basic (Type II) proteins that give hair such aspects as resilience, and elasticity
tail dragging pulling the tail along with difficulty or effort; may be due to paralysis or weakness
decreased anti-nuclear antigen antibody level reduced level of antibodies to nuclear antigens present in the sera
abnormal vertebral epiphyseal plate morphology any structural anomaly of the lateral cartilaginous centers of ossification; may be found on the lateral, upper, and/or lower surfaces of the vertebrae at different times during development
increased amacrine cell number increase in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina
hypaxial muscle hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue
absent pulmonary valve cusps absence of the three fibrous triangular components and associated flaps of the pulmonary valve
abnormal intestinal enteroendocrine cell morphology any structural anomaly of the various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the intestinal tract
decreased omental fat pad weight less than average weight of the encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon
fused metatarsal bones improper union of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges
abnormal jejunum morphology any structural anomaly of the portion of the small intestine that extends from the duodenum to the ileum
abnormal interscapular fat pad morphology any structural anomaly of the encapsulated adipose tissue located between the scapulae
enlarged stomach increased size of the stomach
absent sexual maturation failure to initiate pubertal changes that result in achievement of full sexual capacity
myocarditis An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.
decreased spleen iron level reduction in the amount of iron present in the spleen tissue
cortical renal glomerulopathies any disease of the capillary plexus in the kidney cortex
abnormal zygomatic bone morphology any structural anomaly of the quadrilateral bone that forms the prominence of the cheek
impaired learning impaired ability to aquire lasting change in behavior that is the result of experience
decreased uterine fat pad weight less than average weight of the encapsulated adipose tissue associated with the uterus
increased hindbrain size greater than average size of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived
abnormal cns synaptic transmission defect in the communication from a neuron to a target across a synapse in the central nervous system
abnormal cerebellum vermis lobule ix morphology
abnormal endoplasmic reticulum morphology any structural anomaly of irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells
decreased rhombomere 6 size reduced size of the sixth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order
abnormal pro-b cell morphology any structural anomaly of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs
abnormal urine calcium level any change in the amount of calcium in the urine
pancreas necrosis morphological changes resulting from pathological death of pancreas tissue; usually due to irreversible damage
abnormal retroperitoneal fat pad morphology any structural anomaly of the encapsulated adipose tissue found on the dorsal side of the peritoneum
truncated tail bud shortened tail bud that terminates in a blunt end (instead of a tapered end)
abnormal platelet serotonin level anomaly in the amount in platelets of serotonin, a biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity
abnormal thymus corticomedullary boundary morphology any structural anomaly of the dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, dendritic cells, variable numbers of perivascular B-lymphocytes and plasma cells; site of entry of bone marrow stem cells and exit of mature, functional T cells
decreased submandibular gland size reduced size of either of the large major salivary glands situated beneath the mandible
abnormal renal phosphate reabsorbtion any anomaly in the process by which phosphate (salt or ester of phosphoric acid) is transported out of the renal tubules back into the bloodstream
retinal outer nuclear layer degeneration a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones
excessive digestive secretion increase in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system
abnormal metacarpal bone morphology any structural anomaly in the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges
small prostate gland ventral lobe reduced size of the rodent prostate lobe that is located below the ventral aspect of the bladder neck
abnormal renal filtration rate altered ability of the kidneys to remove substances from the plasma for excretion in a specific period of time
abnormal ly6c low monocyte number deviation in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes
decreased total tissue mass decreased physical bulk or volume of the body including lean body mass, fat body mass, and bone tissue
decreased monocyte cell number
enlarged vertebral body increased size of the main cylindrical portion of the vertebra ventral to the vertebral canal
absent gastric milk in neonates failure of nursing offspring to ingest milk as indicated by stomach content
absent awl hair absence of truncal hairs that are straight, but are shorter than guard hairs, and contain two or more air cells in the medulla
abnormal pillar cell morphology any structural anomaly of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti
renal glomerulus cysts abnormal membranous sacs in any portion of the renal glomerulus
abnormal cerebellar granule cell morphology any structural anomaly of the small neurons of the cerebellar granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites
abnormal limb development anomaly in the formation of the limbs
abnormal substantia nigra morphology any structural anomaly of the layer of grey substance that separates the posterior parts of the cerebral peduncles (tegmentum mesencephali) from the anterior parts; it normally includes a posterior compact part with many pigmented cells (pars compacta) and an anterior reticular part whose cells contain little pigment (pars reticularis)
vascular ring A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.
increased chemical nociceptive threshold a greater than average concentration at which chemically induced pain sensation is first detectable
enlarged myocardial fiber increased size of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart
hearing/vestibular/ear phenotype
abnormal right renal artery morphology any structural anomaly of the major vessel which arises off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supplies the right kidney with blood
abnormal glycosaminoglycan level any change in the amount of glycosaminoglycan, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit
scaly muzzle muzzle covered with shedding scales or flakes
ketoaciduria
abnormal sebocyte morphology any structural anomaly of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation (holocrine secretion); these cells are most commonly found in the skin in association with hair follicles (forming the pilosebaceous unit), where they arise from hair follicle keratinocytes, but there are also sebaceous glands not associated with a hair follicle; the latter have special functions as secretion of pheromones or corneal protection
decreased left ventricle systolic pressure decrease in the pressure in the left ventricle as the heart contracts and pumps blood into the arteries
abnormal embryo implantation anomaly in the process in which the blastocyst and/or the uterine environment to successfully synchronize allowing attachment of the blastocyst to the epithelial lining of the uterus, its penetration through the epithelium and any subsequent physiological interactions necessary to sustain embryonic development
primary vitreous hyperplasia overdevelopment or increased size of the primary vitreous, usually due an increased number of cells
abnormal cranial vagina morphology any structural anomaly of the upper third of the female reproductive canal located between the uterus and the vulva, usually due to a developmental arrest or agenesis of the caudal Mullerian ducts
abnormal circulating parathyroid hormone level anomaly in the blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body
abnormal folliculo-stellate cell morphology any structural anomaly of the star-shaped and follicle-forming cells in the anterior pituitary gland that stain positive for S-100 protein (a marker for FS-cells); ascribed functions include the formation of an extensive and complex tridimentional network, scavenger activity by engulfing degenerated cells, paracrine regulation of endocrine cells by producing various growth factors and cytokines, such as interleukin-6, leukemia inhibitory factor, basic fibroblastic growth factor, vascular endothelial cell growth factor and follistatin, and large-scale inter-cellular communication by means of their long cytoplasmic processes and gap junctions
decreased posterior semicircular canal size small size of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance
increased macrophage nitric oxide production greater production of macrophage-derived nitric oxide due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels
exostosis A hyperostosis that involves formation of new bone on the surface of preexisting bone.
abnormal primitive streak morphology anomaly in the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm
absent placental labyrinth absence of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood
increased hematopoietic stem cell number greater cell count of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages
abnormal hair follicle bulge morphology any structural anomaly in the area located in the bottom of the permanent portion of a resting (telogen) hair follicle where the cells of the external root sheath of the hair follicle are contiguous with the basal layer of the epidermis; this portion of the follicle is involved in the generation of a new hair at the onset of the hair growth cycle (anagen) and contains the hair follicle stem cells
abnormal t cell number deviation from the normal count of T cells
decreased cellular hemoglobin content decrease in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume
vaginal septum a longitudinal or transverse congenital partition within the muscular canal extending from outside of the body to the cervix; usually caused by incomplete fusion of the Mullerian ducts in embryogenesis
maximal tonic hindlimb extension seizures seizures induced by electrical stimulation of the brainstem; manifesting as a tonic-clonic flexion/extension sequence, starting in tonic extension of the forelimbs and terminating in a full tonic hindlimb extension, which is defined when the angle of the hindlimbs to the torso exceeds 90 degrees (although it is usually 180 degrees)
abnormal hippocampus neuron morphology any structural anomaly of one or more neurons residing in the hippocampal region of the brain
chondrodystrophy A bone development disease that results_in defective development of cartilage or bone.
abnormal visceral yolk sac cavity morphology any structural anomaly of the closed space containing the yolk, formed by the fusion of the edges of the embryonic epiblast (hypoblast) and later surrounded by the visceral yolk sac (hypoblast and visceral yolk sac mesoderm)
optic nerve swelling
abnormal mammary gland growth during pregnancy anomaly in the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation in preparation for lactation
decreased circulating glycerol level reduced blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source
salivary gland epithelial hyperplasia increased cell number in the epithelium of the salivary gland
abnormal vertebral spinous process morphology any structural anomaly of the dorsal projection of the vertebral arch that projects backward and downward from the junction of the laminae, and serves for the attachment of muscles and ligaments
abnormal somatic hypermutation frequency any anomaly in the high frequency of programmed mutation that occurs in the gene segments encoding the variable regions of antibodies during the differentiation of individual B lymphocytes into antibody producing plasma cells
enlarged first pharyngeal arch increased size of the first branchial arch
increased startle reflex reduced threshold or more severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch
decreased interferon-beta secretion reduction in the production or release of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity
erythruria passage of red colored urine
rhombomere transformation homeotic transformation of a specific rhombomere to adopt the fate of another
cochlear degeneration Degeneration of the cochlea.
abnormal erythroid progenitor cell morphology any structural anomaly of a progenitor cell committed to the erythroid lineage
absent adrenal chromaffin cells absence of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine and norepinephrine secretion
abnormal pontine flexure morphology any structural anomaly of the dorsally concave bend of the embryonic rhombencephalon that produces a thinning of the roof of the pons and medulla oblongata and defines the boundary between the metencephalon and myelencephalon in the embryo
aspiration Inspiration of a foreign object into the airway.
increased anti-chromatin antibody level increase in the level of antibodies that recognize chromatin
abnormal thyroid diverticulum morphology any structural anomaly in the endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor
decreased activity of parathyroid
abnormal cardiac neural crest cell migration any anomaly in the migratory path of cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs which originate from the lower hindbrain between the otic placode and third somite and migrate to the circumpharyngeal ridge (an arc-shape ridge located dorsal to the forming caudal pharyngeal arches) and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT); cardiac NCCs undergo migration away from the neural tube by following a dorsolateral path under the ectoderm, leading them to the pharyngeal arches; after pausing, they resume migration under the pharyngeal endoderm and, along the aortic arch arteries, populate the cardiac OFT where they contribute the aorticopulmonary septum, and ultimately colonize the heart to form the ventricular septum and cardiac ganglia
absent uterine horn absence of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet
abnormal peroxidase activity anomaly in the ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O
meiotic nondisjunction failure of homologous chromosomes to separate to the cell poles at anaphase
abnormal b cell selection anomaly in the process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival
abnormal response to new environment altered behavioral reaction associated with placing an animal in a new location
type ii spiral ligament fibrocyte degeneration degeneration or loss of type II spiral ligament fibrocytes found in the suprastrial zone and the central area of the spiral ligament beneath the spiral prominence
abnormal interventricular septum muscular part morphology any structural anomaly of the muscular portion of the wall between the two lower chambers of the heart
enlarged hippocampus Increase in size of the hippocampus.
pulmonary arteriovenous malformation
abnormal blood flow velocity any anomaly in the rate of flow of the blood through vessels
absent chiasmata formation during meiosis I there are no observable cross-over regions where nonsister chromatids of homologous chromosomes recombine with each other
abnormal megakaryocyte progenitor cell morphology any structural anomaly of the progenitor cells of the thrombocytic (platelet) line of cells
fused right lung lobes complete or partial fusion of the right lung lobes, indicative of defective lobar septation during embryonic lung development
decreased visual acuity Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
uterus atrophy acquired diminution of the size of the uterus associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
abdominal situs inversus A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen.
abnormal fatty acid oxidation anomaly in the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen.
pancreatic acinar cell atrophy acquired diminution of the pancreatic acinar cells associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
enlarged eye anterior chamber increased size of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens
increased channel response threshold increase in the value at which a stimulus first elicits a recordable response recorded from ion channels
decreased muscle spindle number reduced number of the sensory organs in muscle that are involved in the stretch reflex
enhanced behavioral response to addictive substance increased sensitivity to an addictive substance capable of inducing the appearance of behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response
increased purkinje cell number greater than normal number of neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex
impaired gastric peristalsis
nasal inflammation local accumulation of fluid, plasma proteins, and leukocytes in the proximal portion of the respiratory passages
increased left ventricle diastolic pressure increase in the pressure in the left ventricle between heart beats when the heart is relaxed
absent cochlea absence or agenesis of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound
abnormal cardiac epithelial to mesenchymal transition anomaly in the process by which endocardial cells of the atrioventricular canal or the outflow tract lose their epithelial characteristics, delaminate from the endocardial sheet, become migratory and invade the cardiac jelly, and develop mesenchymal characteristics eventually forming both the endocardial cushions required for septum and atrioventricular valve formation and the cushions of the outflow tract that form the conotruncal septum
increased trabecular bone volume increase in the amount of space occupied by trabecular bone tissue in the skeleton
abnormal urine potassium level any change in the amount of potassium in the urine
cardiac hypertrophy an increase in size of the cardiac tissue, not due to increased cell number
abnormal cerebellum vermis morphology any structural anomaly of the narrow medial zone between the two hemispheres of the cerebellum that is delimited by two longitudinal furrows; it may be continuous with the cerebellar hemispheres in some areas of the cerebellum, e.g., dorsally, or separated by deeper fissues in others (e.g., ventrally); it receives inputs from the spinocerebellar tracts which carry to the vermis information on the position and balance of the torso, and it sends projections to the fastigial nucleus of the cerebellum, which then sends output to the vestibular nuclei
failure of palatal shelf elevation the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue
abnormal lung hysteresivity anomaly in the lung tissue property defined as the ratio of dissipated energy to stored energy over a respiratory cycle; it can be measured as the area enclosed by a pressure-volume loop of the lung, and is dependent on composition and microstructure of the tissue components such as the elastic connective tissue
small peyer's patches reduced size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles
decreased mitochondria size reduced size of the cellular organelles responsible for energy production
abnormal neuron morphology A structural anomaly of a neuron.
abnormal dorsal striatum morphology any structural anomaly of the regions of the caudate nucleus and the putamen that lie dorsal to the anterior commissure
absent meckel's cartilage absence of this cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible; gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments
urethra atresia closure, or failure to develop a connection in the canal that leads from the bladder and discharges urine externally
abnormal anterior commissure pars anterior morphology any structural anomaly of the small horseshoe-shaped anterior part of the anterior commissure which pass into the two olfactory bulbs
decreased soleus weight reduction in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot
abnormal thymus epithelium morphology any structural anomaly of the supporting framework of the thymus
cleft chin incomplete fusion of the chin; usually a fissure
abnormal gonad rudiment morphology any structural anomaly of the undifferentiated mesoderm that gives rise to the gonads
increased erythropoietin level greater fluid or tissue concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine
abnormal cytokine secretion anomaly in the production or cellular release of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells
absent lactotrophs absence of an acidophilic cell of the anterior pituitary that produces prolactin
abnormal ossification involved in bone maturation anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in the progression of the developing skeleton from its formation to its mature state
abnormal pyloric sphincter morphology any structural anomaly of the thick circular layer of gastric musculature encircling the gastroduodenal junction at the gastric outlet of the stomach
frontal bone foramen presence of a hole in the bone forming the forehead and roof of the eye orbit
absent vagina Aplasia of the vagina.
complete perinatal lethality death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)
abnormal pre-botzinger complex morphology any structural anomaly of the group of interneurons within the medulla oblongata's ventral respiratory group that are important for the generation of ventilatory (inspiratory) rhythmogenesis
enlarged external male genitalia increased size of the external masculine genital organs, including the penis and scrotum
heart inflammation local accumulation of fluid, plasma proteins, and leukocytes in the heart
abnormal mating frequency increased, reduced or absent attempt of sexual behavioral contact between an initiating organism and a receptive partner
absent lymphocyte absence of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells
decreased collagen level decreased level of the main structural protein of the various connective tissues in animals
intraventricular hemorrhage bleeding into the brain ventricles
disorganized dorsal root ganglion loss of segmentation pattern of dorsal root ganglia or loss of regular spacing between the ganglia
abnormal conditioned taste aversion behavior anomaly in the ability of an animal to learn to avoid food sources that were previously associated with aversive internal stimuli or sickness such as a drug that induces sickness
abnormal cell death any anomaly in the cessation of function at the cellular level
dilated third ventricle An increase in size of the third ventricle.
increased circulating corticosterone level greater than the normal amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion
abnormal cochlear frequency tuning any anomaly in the frequency resolution of the cochlea, normally determined by the passive mechanical properties of the basilar membrane and active feedback from the outer hair cells which detect and amplify sound-induced basilar membrane motions
stereotypic behavior A repetitive behaviour that does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps.
enhanced exercise endurance improved performance during controlled physical activity
increased mean systemic arterial blood pressure increase in the average arterial pressure during a single cardiac cycle
abnormal uterine spiral artery remodeling any anomaly of the physiological conversion of the uterine spiral arteries into highly dilated vessels by the action of invading trophoblast; in pregnancy, trophoblast invasion and uterine spiral artery remodeling are important for lowering maternal vascular resistance and increasing uteroplacental blood flow; this process involves loss of smooth muscle and elastic lamina from the vessel wall, and significant dilation at the mouth of the vessel; impaired spiral artery remodeling has been implicated in preeclampsia, fetal growth restriction, and preterm labor
decreased lung endothelial cell migration reduced or slower movement of endothelial cells or their precursors to the appropriate location in the pulmonary vasculature
increased renal carcinoma incidence greater than the expected number of malignant neoplasms arising from kidney epithelial tissue, occurring in a specific population in a given time period
rectal atresia congenital absence, closure, or constriction of the lumen of the terminal portion of the intestinal tube adjacent to the anus, leading to abdominal distention after birth
increased circulating testosterone level greater than the normal blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females
increased leydig cell tumor incidence greater than the expected number of rare testicular tumors of the male gonadal interstitium, occurring in a specific population in a given time period; Leydig cell tumors are frequently hormonally active, leading to feminizing or virilizing syndromes; Leydig cell tumors comprise 1-3% of all testicular neoplasms, can be pure or mixed with other sex cord-stromal or germ cell tumors, and are usually benign, although malignant variants also occur
abnormal brain vasculature morphology any structural anomaly of the blood vessel network of the brain
increased interleukin-3 secretion increase in the production or release of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells
abnormal aorta collagen fibril morphology any structural anomaly of the connective tissue bundles in the extracellular matrix of aorta tissue that are composed of collagen, and play a role in tissue strength and elasticity
abnormal splenocyte apoptosis deviation in the number of spleen cells undergoing programmed cell death
malocclusion Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
pulmonary fibrosis
abnormal neural crest cell morphology any structural anomaly of the transient and highly migratory group of cells that delaminate in early embryonic development from the dorsal neural tube and give rise to a variety of differentiated cell types, including (1) the neurons and glial cells of the sensory, sympathetic, and parasympathetic nervous systems, (2) the epinephrine-producing (medulla) cells of the adrenal gland, (3) the pigment-containing cells of the epidermis, and (4) many of the skeletal and connective tissue components of the head
truncation of digits absence of the most distal region of the digits
abnormal hypodermis fat layer morphology any structural anomaly of the superficial portion of the subcutaneous tissue which is specialized for fat storage
abnormal splenocyte physiology any functional anomaly of a cell of the spleen
complete lethality at weaning premature death at weaning age of all organisms of a given genotype in a population, often due to the inability to make the transition to solid food
abnormal odontoid process morphology any structural anomaly of the large protuberance that projects upward from the cervical axis, around which the cervical atlas rotates
mottled coat coat has spots, streaks, and/or blotches of a different color
abnormal skeletal muscle fiber triad morphology any structural anomaly of the skeletal muscle fiber structure comprised of the transverse tubule and the two associated terminal cisternae; each fiber normally has thousands of triads
retinal rod cell degeneration a retrogressive impairment of function or destruction of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane
abnormal adipose tissue distribution alterations in the normal placement of body fat
absent vertebral pedicles loss of the two short, thick processes, which project backward, one on either side, from the upper part of the body to the laminae
abnormal liver sinusoid morphology any structural anomaly of the hepatic distensible vascular blood channels lined with highly fenestrated endothelial cells that function to exchange fluids, nutrients, proteins and wastes
decreased inflammatory response An abnormal reduction in the inflammatory response to injury or infection.
abnormal cd8-positive, alpha-beta t cell number anomaly in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions
abnormal renal water transport any anomaly in the directed movement of water (H2O) by the kidney
increased aorta wall thickness increased depth of the part of the aorta that encloses the luminal space
absent heart valves failure to form all of the membranous folds of the heart that prevent reflux of fluid
ectopic pancreas
wavy tail undulations or a sinusoidal shape of the tail
increased thymocyte apoptosis increase in the number of immature T cells located in the thymus that are undergoing programmed cell death
abnormal liver iron level anomaly in the amount of iron present in the liver tissue
eye bleb presence of blister-like structures formed in the eye during embryonic development that are usually filled with blood
increased susceptibility to type iii hypersensitivity reaction greater likelihood of developing tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via antibodies encountering circulating antigen; Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury
abnormal endocrine pancreas development anomaly in the formation of the smaller portion of the pancreas that secretes a number of hormones into the blood stream that are produced by the cells in the islets of Langerhans
decreased primary ovarian follicle number fewer than normal numbers of the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the follicle becomes surrounded by a sheath of stroma, the theca
decreased respiratory quotient reduction in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls
high palate Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
abnormal igg2a level deviation from the normal levels of immunoglobulin class G2a level
decreased rhombomere 5 size reduced size of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order
increased susceptibility to viral infection greater likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus
bilirubinuria presence of conjugated bilirubin in the urine
abnormal peyer's patch size anomaly in the size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles
basisphenoid bone hypoplasia underdevelopment or reduced size, usually due to reduced cell number, in part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone
abnormal mesenchyme morphology any structural anomaly of the loosely packed, unspecialized cells that derive mostly from the mesoderm and contribute to connective tissue, bone, cartilage and circulatory and lymphatic systems
epidermis stratum granulosum hyperplasia overdevelopment or increased size, usually due an increased number of cells, of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis
abnormal self tolerance a defect in the normal lack of response to autologous (self) antigens
abnormal cardiac valve physiology
abnormal circulating mineral level any anomaly in the concentration in the blood of any naturally occurring, homogeneous inorganic solid substance having a definite chemical composition and highly ordered atomic arrangement that is required for growth and survival
abnormal mural trophectoderm morphology any structural anomaly of the trophectoderm portion distal to the ICM that overlays the blastocyst cavity and gives rise to polyploid trophoblast giant cells
decreased circulating pituitary hormone level less than expected concentration of any of the pituitary hormones found in the blood
erythrocyturia presence of red blood cells in the urine
abnormal synaptic dopamine release aberrant secretion across synapses of the catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary
dilated oviduct an expansion in the volume or area of the tube through which the ova pass from the ovary to the uterus, usually with an increase in contained fluid
microcytosis the presence of unusually small erythrocytes in the circulating blood
increased susceptibility to age-related hearing loss greater than normal loss of hearing associated with advancing age, manifest as reduced ability to perceive or discriminate sounds; the pattern and age of onset vary
abnormal platelet adp level anomaly in the amount of the major energy source adenosine diphosphate produced by dense bodies located in platelets
cervical vertebral fusion A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.
thick mitral valve an increase in the ratio of the mitral valve wall thickness to the atrioventricular septum thickness
abnormal inferior vena cava morphology any structural anomaly of the principal vein draining blood from the lower portion of the body
abnormal renal glomerular capsule morphology any structural anomaly of the expanded beginning of a nephron that contains the glomerulus
abnormal left posterior bundle morphology any structural anomaly of the left branch of the atrioventricular bundle that separates at the bundle of His, descends the septal wall of the left ventricle and connects to the terminal Purkinje fiber
abnormal hippocampus ca1 region morphology any structural anomaly of a cytoarchitectural subregion of the Ammon's horn region of the hippocampal formation consisting primarily of pyramidal neurons; the pyramidal neurons of CA1 receive projections from pyramidal neurons of CA3 via the Schaffer collaterals and send outputs to the entorhinal cortex and to the subiculum
abnormal stria vascularis vasculature morphology any structural anomaly of the blood vessels supplying the stria vascularis in the cochlea of the inner ear
abnormal abdominal wall morphology any structural anomaly of the margins that enclose the abdominal cavity; the major part is muscular but also includes skin, subcutaneous fat, fascia and the parietal peritoneum
decreased lymphatic vessel endothelial cell number reduced number of the cells that line the lymphatic vessels
decreased corpora lutea number fewer than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrous cycle
abnormal renal glomerulus basement membrane morphology any structural anomaly of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter
kyphosis Exaggerated anterior convexity of the thoracic vertebral column.
abnormal qrs complex anomaly in the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction
decreased aggression when compared to controls, subjects exhibit less than the normal level of domineering, assault posture and/or hostile physical action
abnormal cochlear hair bundle ankle links morphology any structural anomaly in the long, single-stranded filaments that form a dense web or mesh around the base of cochlear hair bundles just above the region in which the stereocilia begin to taper down; in the mouse, ankle links are only a transient feature of the developing cochlear hair bundles, present predominantly from P2 though P9, but are absent by P12; ankle links are disrupted by treatment of hair cells with EGTA and subtilisin but not by La3+ and elastase
disorganized embryonic tissue a lack of the regular arrangement of any embryonic tissues
vertebral compression
abnormal hair follicle melanogenesis failure of or anomaly in the biosynthetic pathway of melanin formation in hair follicles
abnormal cellular cholesterol metabolism impaired regulation of cellular cholesterol levels
ectopic nipples abnormal location of structures normally located on the apex of the mammary gland on the integument surface into which the lactiferous ducts open
abnormal antigen presentation via mhc class i anomaly in the process by which peptide, bound to major histocompatibility complex class I, is presented to lymphocytes at the surface of antigen presenting cells
chronic diarrhea The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
abnormal fat-soluble vitamin level any anomaly in the concentration of any of the organic substances found in food that are necessary in trace amounts for normal metabolic function and which require the presence of lipids for assimilation in the body
abnormal otic capsule development any anomaly in the embryonic cartilage covering that surrounds the inner ear mechanism and develops into bone
abnormal testis interstitial tissue morphology any structural anomaly of the delicate connective tissue stroma that separates the seminiferous tubules and contains clusters of endocrine Leydig cells which secrete testosterone
decreased white fat cell size reduction in the size of fat cells with light coloration and few mitochondria
absent photoreceptor inner segment absence of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region
increased thyroid gland weight higher than average weight of the thyroid gland
decreased circulating ferritin level reduced concentration in the blood of ferritin, a ubiquitous intracellular protein that stores iron and releases it in a controlled fashion; some ferritin is also found in the blood and is measured in tests for overall iron levels, anemia and chronic diseases
thin myocardium compact layer reduced thickness of the outer, dense layer of the myocardium
abnormal optic vesicle formation anomalous formation of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop
hypocapnia Abnormally reduced blood carbon dioxide (CO2) level.
decreased dopaminergic neuron number fewer than normal numbers of the neurons that utilize dopamine as a neurotransmitter
increased medulloblastoma incidence greater than the expected number of a solid, cancerous tumor originating in the cerebellum of the brain and of primitive neuroectodermal origin, occurring in a specific population in a given time period
absent scrotum Congenital absence of the scrotum.
absent ilium absence of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis
abnormal uterine fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the uterus
absent epidermis stratum corneum absence of the outer layer of the epidermis, composed of several layers of keratinized non-nucleated cells
abnormal cerebellum vermis lobule morphology any structural anomaly of the region of a cerebellar lobule that resides in the central section of the cerebellum between the two hemispheres; in humans, vermis lobule regions may be nearly continuous with the cerebellar hemisphere lobules dorsally but are separated by deeper longitudinal fissues in the ventral regions; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres
absent lymph nodes absence of the oval or bean shaped bodies located along the lymphatic system that consist of densely packed lymphocytes, lymph fluid and connective tissue; these are the sites where acquired immune responses are launched
abnormal classified tumor incidence an anomaly in the expected number of tumors with a specific classification type in a given population in a given time period
abnormal sperm midpiece morphology any structural anomaly of the highly organized segment of the sperm flagellum which begins at the connecting piece and is characterized by the presence of 9 outer dense fibers (ODFs) that lie outside each of the 9 outer axonemal microtubule doublets and by a sheath of mitochondria that encloses the ODFs and the axoneme; the midpiece terminates about one-fourth of the way down the sperm flagellum at the annulus, which marks the beginning of the principal piece
enhanced conditioned place preference behavior increase in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment
renal tubule hypertrophy increase in the bulk size of the loop of Henle, the proximal convoluted tubule or the distal convoluted tubule, due to cell enlargement
abnormal prechordal plate morphology any structural anomaly of the horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue
abnormal dermal pigmentation anomaly in the coloration of the dermal layer of the skin due to changes in the amount, shape, or distribution of cells producing pigment
decreased heart weight less than average weight of the heart compared to controls
decreased neurotransmitter release reduced production or release of endogenous signaling molecules normally secreted by neurons that alter the behavior of neurons or effector cells
abnormal cochlear outer hair cell physiology any functional anomaly in processes pertinent to the function of cochlear OHCs which are known to enhance the performance of the cochlea, both qualitatively (increased selectivity) and quantitatively (increased sensitivity); in addition to the mechanoelectric transduction required for auditory sensation, OHCs also perform electromechanical transduction, whereby transmembrane voltage drives rapid changes in the length and stiffness of OHCs at audio frequencies in vitro (electromotility)
decreased coping response reduced ability to respond productively to a stressful situation
neurodegeneration a retrogressive impairment of function or destruction of neural tissue
abnormal thrombolysis altered ability to break up (lyse) blood clots that are restricting the blood flow
juxtaglomerular cell hyperplasia increased number of the specialized smooth muscle cells that synthesize, store, and secrete renin and are found in the wall of each afferent arteriole of a kidney glomerulus near its point of entry adjacent to a macula densa
increased pancreatic delta cell number increased number of the cells found in the pancreas that secrete somatostatin
decreased enteric neural crest cell proliferation reduced ability of the enteric neural crest cells to undergo rapid expansion by cell division
corneal abrasion scraping away or denuding of the corneal surface
abnormal rod electrophysiology any functional anomaly of dark adapted vision mediated by the rods
impaired luteal cell differentiation abnormal development of the cells of the corpus luteum of the ovary
distended cecum an expansion in the volume of the large sac at the ileum and large intestine junction, as by stretching or distention
skin inflammation A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.
abnormal myofibroblast differentiation anomaly in the process in which a relatively unspecialized cell acquires specialized features of a myofibroblast, a cell that has characteristics of both a fibroblast cell and a smooth muscle cell and is reportedly capable of secreting IL-1beta, IL-6, and TNF-alpha
allodynia Pain due to a stimulus that does not normally provoke pain.
decreased hindbrain size size reduction or truncation of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived
pterygoid bone hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in the bone region which corresponds to the inner plate of the pterygoid process of the mammalian skull
interstitial pneumonia
abnormal sinus venosus morphology any structural anomaly of the cavity at the caudal end of the embryonic cardiac tube in which the veins from the intra- and extraembryonic circulatory arcs unite; in the adult this becomes the portion of the right atrium known as the sinus of the vena cava
decreased brain sterol level reduced level in the brain of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated
abnormal ear shape any anomaly in the characteristic surface outline or contour of the external ear
abnormal haptoglobin level anomaly in the amount of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity
failure of somite differentiation disorganized or absent somite tissue or somite pattern in development
abnormal pulmonary vein morphology any structural anomaly of the veins that return oxygenated blood from the lungs to the left atrium of the heart
abnormal t-helper 2 cell differentiation atypical production of or inability to produce the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy
abnormal primary palate development any anomaly in the formation of the part of the shelf separating the oral and nasal cavities that is formed during early embryonic development from the medial nasal processes which derive from the frontonasal process; these merge with each other and with the bilateral maxillary processes to form the upper lip and the primary palate
abnormal optic fissure morphology any structural anomaly of the ventral groove formed by invagination of the optic cup and its stalk by vascular mesenchyme from which the hyaloid vessels develop; a transient gap in the ventral margin of the developing optic cup that eventually closes to complete the eye wall inferiorly and enclose the hyaloid vessels in a canal in the optic stalk
heart right ventricle hypertrophy
complete embryonic lethality between implantation and somite formation death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8)
failure to form blastocele developmental anomaly resulting in the absence of the cavity in the blastocyst of the developing embryo
hypersecretion of adrenocorticotropin increased release of this pituitary hormone from the pituitary gland that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex
abnormal glial cell morphology any structural anomaly of non-neuronal cells of the nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons
biventricular, ambiguous atrioventricular connection
abnormal retinal rod bipolar cell morphology any structural anomaly of the bipolar cells that function in low light and transmit signals only through amacrine cells
increased circulating interleukin-4 level increase in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells
enhanced behavioral response to anesthetic increase or exceleration in the behavioral changes that follow exposure to a given amount of an anesthetizing agent
absent peritoneal vaginal process absence of the peritoneal diverticulum in the embryonic lower anterior abdominal wall that traverses the inguinal canal
disorganized photoreceptor outer segment derangement of the pattern of the photoreceptor region that is rich in the visual pigment rhodopsin
abnormal aerobic fitness any change in the metabolism resulting in an altered ability to do physical work; for example, alterations in running capacity
sepsis Systemic disease associated with the presence of pathogenic microorganisms or their toxins in the blood.|Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK.|The presence of pathogenic microorganisms in the blood stream causing a rapidly progressing systemic reaction that may lead to shock. Symptoms include fever, chills, tachycardia, and increased respiratory rate. It is a medical emergency that requires urgent medical attention.|Septicemia caused by pyogenic microorganisms (e.g., STAPHYLOCOCCUS; BACILLUS), resulting in the formation of secondary foci of SUPPURATION and multiple ABSCESSES.|A disease of infectious agent resulting from the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. These pathogens are able to cause disease in animals and/or plants. Infectious pathologies are usually qualified as contagious disease (also called communicable disease) due to their potentiality of transmission from one person or species to another.|Sepsis associated with organ dysfunction distant from the site of infection.
abnormal cervical rib alternate location or appearance of a rare supernumerary rib commonly articulating with the seventh cervical vertebrae (above the normal first rib) but not reaching the sternum anteriorly
decreased regulatory t cell number reduced number of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity
abnormal external carotid artery morphology any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the throat, neck glands, tongue, face, mouth, ear, scalp and dura mater of the meninges
decreased hepatoma incidence less than the expected number of malignant tumors composed of neoplastic liver cells in a specific population in a given time period
abnormal follicular dendritic cell physiology abnormal function of a cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response
abnormal active avoidance behavior anomaly in the ability to escape a hostile environment to actively avoid the unpleasant or punishing stimuli ( e.g. shock) previously encountered in this environment
abnormal branching involved in seminal vesicle morphogenesis anomaly in the process in which the seminal vesicle is generated and organized in many mammals including mice and humans; in mice, the initial seminal vesicle buds form cane-shaped tubes off of the Wolffian ducts before birth; after birth, the initial tubes develop lateral branches that elongate and often undergo secondary branching morphogenesis; branching morphogenesis is largely complete by 2 weeks of age
abnormal head morphology any structural anomaly of the portion of the body containing the brain and organs of sight, hearing, taste, and smell
absent podocyte slit diaphragm absence of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream
complete neonatal lethality death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)
absent forelimb buds absence or loss of the limb bud that normally develops into a forelimb (usually the arm or front limb in mammalian species)
skeletal muscle fiber necrosis morphological changes resulting from pathological death of skeletal muscle fiber tissue; usually due to irreversible damage
cns inflammation
increased circulating alkaline phosphatase level elevated concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters
complete lethality throughout fetal growth and development death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)
abnormal circulating vldl cholesterol level any anomaly in the amount in the blood of the lipoprotein:cholesterol complex that transports triglycerides from the intestine and liver to muscle and adipose tissue
increased osteoblast cell number greater than average number of skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell
increased podocyte apoptosis increase in the number of podocytes undergoing programmed cell death; podocyte apoptosis is an early step in the pathophysiological progression to proteinuria and glomerulosclerosis
abnormal internal male genitalia morphology any structural anomaly of the internal masculine genital organs, including the testes, epididymides, deferent ducts, seminal vesicles, prostate, ejaculatory ducts, and bulbourethral glands
abnormal compact bone mass anomaly in the total amount of compact bone tissue contained in the skeleton
increased embryo size larger proportions of embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis)
abnormal iris pigmentation Abnormal pigmentation of the iris.
absent mesoderm absence of the middle of the three primary germ layers of the embryo (the others being ectoderm and endoderm) during gastrulation; mesoderm is the origin of connective tissues, myoblasts, blood, the cardiovascular and lymphatic systems, most of the urogenital system, and the lining of the pericardial, pleural, and peritoneal cavities
increased adrenal gland adenoma incidence
abnormal trophoblast giant cells anomaly of the cells covering the blastocyst that erode the uterine mucosa and contribute to the formation of the placenta
neuronal cytoplasmic inclusions presence of aggregates of protein within the cytoplasm of neurons; hallmark of neurodegenerative disorders
abnormal stomach glandular epithelium morphology any structural anomaly of the gland-containing epithelial layer of the stomach
abnormal thiamin level any anomaly in the concentration of thiamine (vitamin B1), a water soluble vitamin present in fresh vegetables and meats, especially liver
abnormal cerebellar cortex morphology any structural anomaly of the thin mantle of grey matter that covers the surface of each cerebral hemisphere, including the six layers of nerve cells and the nerve pathways that connect them; together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function
abnormal eye muscle morphology any structural anomaly of the muscles of the eye
hypovolemia An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.
abnormal nursing females show anomlies in the feeding of offspring from mammary glands, or do not nurse offspring, or nurse offspring infrequently
ocular hypertension
abnormal cellular respiration anomaly in the enzymatic release of energy from organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration)
increased activity of thyroid
abnormal head development anomaly in the process in which the anatomical structures of the head are generated and organized
abnormal nervous system regeneration changes in the ability or inability of healthy nervous system tissue to regenerate following injury or disease
patent ductus arteriosus OMIM mapping confirmed by DO. [SN].
increased tumor incidence following infection greater than the expected number of neoplasms in a specific population after infection with a pathogen in a given time period, usually of a specific type
increased b-2 b cell number greater number of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells
audiogenic seizures
abnormal pericardium morphology any structural anomaly of the fibroserous membrane covering the heart and beginning of the great vessels
abnormal glomerular capsule visceral layer morphology any structural anomaly of the inner layer of the glomerular capsule surrounding the capillary endothelial cells and composed of highly specialized epithelial cells (podocytes) that are separated by filtration slits; the visceral layer is separated from the outer parietal layer by the urinary space (also known as the Bowman's or capsular space)
abnormal bladder urine volume any anomaly in the amount of space occupied by urine in the bladder
abnormal spleen b cell corona morphology any structural anomaly of the area of the spleen secondary B follicle that surrounds the germinal center and harbors the small recirculating B lymphocytes
increased adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization, occurring in a specific population in a given time period; this tumor type usually does not invade or infiltrate surrounding tissue but may remain a benign tumor or progress to malignancy
decreased b wave implicit time decrease in the time from the onset of light stimulus to the peak of the b wave
decreased pro-b cell number reduced number of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs
abnormal lactation atypical production of milk from the mammary gland
decreased cellular sensitivity to oxidative stress reduced incidence of cell death or enhanced production of reactive oxygen species after exposure to a variety of stress conditions including ionizing radiation, exposure to xenobiotics, inflammation, and phagocytosis
abnormal inner ear canal morphology any structural anomaly of the tubular ducts of the inner ear
exophthalmos An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit.
increased iga level An abnormally increased level of immunoglobulin A in blood.
abnormal osteoblast differentiation atypical production of or inability to produce skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell
decreased gastrocnemius weight reduction in the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles
abnormal pancreatic islet cell apoptosis change in the timing or the number of pancreatic islet cells undergoing programmed cell death
abnormal magnocellular neurosecretory cell morphology any structural anomaly of the cells residing mainly in the hypothalamic supraoptic and paraventricular nuclei and in a number of smaller accessory cell groups between these two nuclei, and secrete the hormones oxytocin and vasopressin
abnormal myotome development malformation of or absence of the part of the somite that develops into the musculature
ectopic pharyngeal arch abnormal location of any of the transient structures of the embryo resulting in misplaced regions of the head, neck and/or ears
decreased organ of corti supporting cell number decreased number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti
small scrotum Apparently small scrotum for age.
unbalanced complete common atrioventricular canal
spontaneous skin ulceration unpredictable appearance of skin lesions, usually with inflammation
abnormal tailgut morphology any structural anomaly of the extension of the hindgut of the primitive digestive tube of the embryo, caudal to the location of the anal opening
premature hair loss release of fur at an earlier than expected time
decreased urine sodium level lower than normal amount of sodium in the urine
altered righting response altered ability or changed amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position
abnormal hematopoiesis any anomaly in the process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure; the site of hemopoiesis is variable during development, but occurs primarily in bone marrow in mammals
abnormal bony labyrinth any structural anomaly in the series of cavities (cochlea, vestibule, and semicircular canals) contained within the otic capsule of the petrous portion of the temporal bone; the bony labyrinth is filled with perilymph, in which the delicate, endolymph-filled membranous labyrinth is suspended
increased lung tumor incidence greater than the expected number of neoplasms in the lung, usually in the form of a distinct mass, in a specific population in a given time period
absent estrus absence or failure of the estrous phase of the estrous cycle in female animals
increased stereotypic behavior more frequent incidence of repetitive, invariant, perseverative motor patterns that do not appear to be purposeful
small vertebrae
decreased glucagon secretion reduction in the production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes
decreased spinal cord size smaller appearance of the spinal cord
increased prostate intraepithelial neoplasia incidence
spongiform encephalopathy A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)
small ureteric bud reduced size of the epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme
abnormal body mass index anomaloy in the average of a measure of weight for height compared to the control
abnormal cochlear hair bundle tip links morphology any structural anomaly in single, three-stranded interrow filaments that extend obliquely from the tip of one stereocilium to the lateral side of an adjacent taller stereocilium; in the mouse, tip links are already detectable prenatally and persist throughout life; tips links are thought to gate the mechanotransducer channel, are lost from the cell surface after exposure to either calcium chelator BAPTA or lanthanum, and resist degradation by the protease subtilisin
dystrophic muscle
absent cranial vagina absence of the upper third of the female reproductive canal located between the uterus and the vulva, usually due to a developmental arrest or agenesis of the caudal Mullerian ducts
decreased plasma anion gap less than the normal interval between the sum of routinely measured cations minus the sum of the routinely measured anions in the blood; the anion gap = (Na+ + K+) - (Cl- + HCO3-) where Na- is sodium, K+ is potassium, Cl- is chloride, and HCO3- is bicarbonate; low anion gap is relatively rare but may occur from the presence of abnormal positively charged proteins, as in multiple myeloma
abnormal skin cell number greater than or fewer than the expected numbers of cells in the cutis
increased urine progesterone level an increased amount of progesterone in the urine compared to the normal state
absent prostate gland anterior lobe absence of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles
abnormal second pharyngeal arch morphology any structural anomaly of the second arch which contributes to the development of the stapes, styloid process, hyoid bone, stylohyoid ligament, muscles of facial expression, stapedius muscle, stylohyoid muscle, and lining of the palatine tonsils
small seminiferous tubules reduced diameter of the tubules in the testes where spermatogenesis occurs
retinal detachment OMIM mapping confirmed by DO. [SN].
abnormal dorsal root ganglion morphology any structural anomaly of a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column
increased susceptibility to bacterial infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria
nonsyndromic hearing impairment a form of hearing impairment that is not associated with visible abnormalities of the external ear or other signs and symptoms; the vast majority of hereditary hearing loss is nonsyndromic and can be associated with abnormalities of the middle ear and/or inner ear
absent adenohypophysis absence of the anterior part of the pituitary that secretes a variety of hormones
abnormal vein development anomaly in the process of forming the blood vessels that carry blood to the heart
abnormal second pharyngeal arch artery morphology any structural anomaly of the vessels formed within the second pair of branchial arches in embryogenesis
pulmonary edema
abnormal common lymphocyte progenitor cell morphology any structural anomaly of a progenitor cell committed to the lymphoid lineage
cryptophthalmos Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.
increased effector memory cd8-positive, alpha-beta t cell number increased number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative
interrupted aortic arch Non-continuity of the arch of aorta with an atretic point or absent segment.
acidemia Abnormal acid accumulation or depletion of base.
exencephaly neurocranial defects resulting in exposure or extrusion of the brain
syndromic hearing impairment hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms
impaired coordination reduced ability to execute integrated movements of muscle
tremors repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement
absent premaxilla missing anterior and interior portion of the maxilla
dilated cardiomyopathy An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently.|A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.|decreased function of the heart associated with cardiac enlargement and congestive heart failure
abnormal t follicular helper cell physiology any functional anomaly of a CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cell located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production
abnormal bone collagen fibril morphology Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity.
abnormal capillary morphology any structural anomaly of the small branching blood vessels that form a network between the arterioles and venules, where the exchange of water, oxygen, carbon dioxide, and other nutrient and waste chemical substances occurs between the blood and the surrounding tissues
abnormal bone mineral density anomaly in the quatitative measurment of mineral content of bone; BMD is used as an indicator of bone strength; bone mineral density is the ratio of bone mineral content to bone size
abnormal laryngeal cartilage morphology any structural anomaly of the cartilaginous structures that support the larynx
ovary hemorrhage presence of bleeding in the ovary
proctitis Proctitis is an inflammation of the rectum.
corneal vascularization formation of blood vessels in the cornea, which normally lacks vessels
mesangial cell hyperplasia increased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft
abnormal intestinal lipid absorption any anomaly in the ability of the body to take up lipids into the blood by absorption from the small intestine
increased sensitivity to skin irradiation increased incidence of aberrant or damaged cells due to irradiation induced genotoxic damage
delayed fertilization a lag in the normal time of onset of the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei
increased myeloid dendritic cell number greater number of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses
absent optic vesicle absence of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop
decreased forebrain size size reduction or truncation of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions)
hydrops fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
abnormal presacral vertebrae morphology any structural anomaly of the vertebrae anterior to the sacrum
decreased igg2c level less than normal immunoglobulin class G2c level
increased fibroblast proliferation greater the expansion rate of a fibroblast cell population by cell division
basisphenoid bone foramen the presence of one or more holes in part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone
distended urinary bladder
posterior subcapsular cataracts a lens opacity localized beneath the posterior lens capsule
thyroid inflammation
abnormal heart septum morphology any structural anomaly of the thin membranous structure between the two heart atria, the atria and the ventricles, or the thick muscular structure between the two heart ventricles
thin ventricle myocardium compact layer reduced thickness of the ventricular portion of the outer, dense layer of the myocardium
abnormal cornea thickness increased or decreased width of the cornea in the center plane
absent tympanic ring missing the bony ring at the ear canal to which the tympanic membrane is attached
abnormal aortic sac morphology any structural abnormality of the dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates
chylous ascites Extravasation of chyle into the peritoneal cavity.
abnormal circulating androgen level anomaly in the blood concentration of any of the steroid hormones that control development and maintenance of masculine characteristics
increased urine antidiuretic hormone level an increased amount of antidiuretic hormone in the urine compared to the normal state
increased gastric adenocarcinoma incidence
thick aortic valve an increase in the ratio of the aortic valve wall thickness to the aortic wall thickness
abnormal squamosal bone morphology any structural anomaly of the thin, plate-like part of the temporal bone
abnormal hair shaft melanin granule shape the form of pigment polymers in the hair shaft differs compared to controls
increased renal hamartoma incidence
increased thigmotaxis greater than average preference for staying at the perimeter walls of an open area or in an enclosed versus exposed area; may be used as an indicator of increased anxiety response
abnormal fatty acid beta-oxidation anomaly in the process that results in the complete oxidation of a long-chain fatty acid, beginning with the addition of coenzyme A to a fatty acid, with successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively)
abnormal behavioral response to xenobiotic any anomaly in the behavioral response induced by a foreign compound, such as consumption preference, induced hyperactivity or stereotypic behavior
abnormal mast cell morphology any structural anomaly of a cell that is found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation
abnormal neural crest cell proliferation any anomaly in the ability of the of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult, to undergo rapid expansion by cell division
long radius increased length of the short bone of the lateral forearm
disorganized barrel cortex derangement of the pattern of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae
pale yolk sac bloodless yolk sac
abnormal milk ejection anomaly of the milk ejection reflex in response to suckling during lactation
microphthalmia
retinal cone cell degeneration a retrogressive impairment of function or destruction of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment
podocyte microvillus transformation aberrant formation of numerous slender cellular projections resembling microvilli or vesicle-like structures along the apical surface of podocytes, suggestive of podocyte injury
abnormal taste sensitivity changes in the ability to perceive a particular flavor or suggestion of something imparting a flavor by the chemoreceptors of the gustatory system
abnormal hippocampal fimbria morphology any structural anomaly of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which then thickens to form the fornix and fibers of the hippocampal commissure
increased circulating luteinizing hormone level higher than the normal levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary
decreased interferon-alpha secretion decrease in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells
abnormal ethmoturbinate morphology any structural anomaly of the conchae of the ethmoid bone which occupy the caudal part of the nasal fossae and form the lateral and superior portions of the turbinate bones in mammals
abnormal optic fissure closure failure to initiate and/or complete closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its rim and posteriorly along the optic stalk; failure or late closure of the optic fissure prevents the establishment of normal fetal intraocular pressure and can result in microphthalmia associataed with colobomas
abnormal hepatobiliary system physiology any functional anomaly of the tissues of the liver or biliary system
decreased cornea thickness
lipodystrophy
abnormal ventricle papillary muscle morphology any structural anomaly of one of the group of myocardial bundles which terminate in the chordae tendineae that attach to the cusps of the atrioventricular valves; each ventricle has an anterior and a posterior papillary muscle; the right ventricle sometimes has a septal papillary muscle
small maxilla Underdevelopment of the Maxilla.
abnormal neck morphology any structural anomaly of the part of body by which the head is connected to the trunk extending from the base of the cranium to the top of the shoulders
abnormal olfactory epithelium morphology any structural anomaly of the epithelial cells that line the interior of the nose
supernumerary mammary glands greater than the expected number of the specialized accessory gland of the skin of mammals that secretes milk
aorticopulmonary septal defect an abnormal communication in the septum between the aorta and pulmonary artery, resulting from incomplete separation of the common tube of the truncus arteriosus and the aorticopulmonary trunk
abnormal hyoid bone greater horn morphology any structural anomaly of the larger and more lateral of the paired processes on either side of the hyoid bone
elliptocytosis hematologic disorder in which an abnormally large number of erythrocytes are elliptical rather than the typical biconcave, disc shape
enlarged uterine horn increased size of the uterine horn
absent tongue absence of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
increased fibrohistocytoma incidence
abnormal olfactory bulb development abnormality in the progression of the formation of the olfactory bulb
impaired lipolysis reduction in the rate of the hydrolysis of fat into free fatty acids
absent oocytes absence of mature germ cells in the female
abnormal cutaneous elastic fiber morphology any structural anomaly of the slender connective tissue fiber in the extracellular matrix of skin tissue that is composed of microfibrils and amorphous elastin and is characterized by great elasticity
increased extremity angiosarcoma incidence higher than normal incidence of malignant neoplasm of soft tissues; thought to arise from endothelial cells of blood vessels
decreased bone resorption reduced amount of degradation of the organic and inorganic phases of bone by absorption, usually by the abnormal function or number of osteoclasts
micrognathia Developmental hypoplasia of the mandible.
abnormal heart size change from normal in the physical magnitude of the cardiac muscle or any of its component structures
anterior iris synechia
abnormal tumor incidence deviation from the expected number of abnormal growths in a specific population
absent respiratory mucosa goblet cells absence of the cells of the respiratory epithelial lining that produce and secrete mucins
abnormal mineral level any anomaly in the concentration of any inorganic substance that has importance in body functions
abnormal compact bone morphology An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.
abnormal labium morphology any structural anomaly of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening
rostral-caudal axis duplication partial or complete duplication of rostral-caudal axis structures
increased serotonin level increase in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity
abnormal heart left ventricle size anomaly of the average size of the left ventricle compared to the average for a particular population
abnormal external male genitalia morphology any structural anomaly of the external masculine genital organs, including the penis and scrotum
abnormal ethanol metabolism altered ability to metabolize the clear, colorless liquid that has formula C2H6O
increased papilloma incidence greater than the expected number of benign tumors consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic epithelial cells occurring in a specific population in a given time period
ascites Accumulation of serous fluid in the spaces between tissues and organs in the cavity of the abdomen.
pinhead sperm a sperm head that is unusually oblong in shape and much smaller than normal; typically, pinhead sperm result when the centrioles from which the sperm tails develop are not correctly aligned opposite the developing acrosome so that sperm heads are lost and absorbed during epididymal transit
enlarged cerebellum An abnormally increased size of the cerebellum compared to other brain structures.
abnormal glomerular capillary endothelium morphology any structural anomaly of the thin, extremely flattened layer of cells that line the interior surface of glomerular capillaries and is densely perforated by large transcellular pores (aka fenestrae or fenestrations) that, unlike those of other fenestrated capillaries, are generally thought to lack diaphragms
urinary bladder exstrophy a herniation of the urinary bladder through an anterior abdominal wall defect; refers to congenital absence of a portion of the lower anterior abdominal wall and the anterior urinary bladder wall, with eversion of the posterior bladder wall through the defect, an open pubic arch, and widely separated ischia connected by a fibrous band
truncated foregut shortened foregut that terminates abruptly as if having an end or point cut off
abnormal loop of henle ascending limb thick segment morphology any structural anomaly of the distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule
increased airway resistance greater opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow
decreased gland tumor incidence less than the expected number of tumors originating in a gland in a given population in a given time period
small testis Reduced volume of the testicle (the male gonad).
endometrium hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy
absent posterior semicircular canal absence of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance
small perianal sebaceous gland decreased size of the modified holocrine gland that is part of the pilosebaceous unit of a hair located in the area around the anus; each of the specialized large hair follicles that surround and form a network around the anus has a pair of large sebaceous glands that empty into the follicle; perianal glands may function as scent glands
abnormal cardiac stroke volume anomaly in the volume of blood pushed into the aorta with each beat of the heart
absent ovary Aplasia, that is failure to develop, of the ovary.
abnormal oviduct morphology any structural anomaly of the tube through which the ova pass from the ovary to the uterus
increased anxiety-related response when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests
increased bleeding time Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.
decreased motor neuron number fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses
abnormal hyaloid artery morphology any structural anomaly of the artery which arises from the dorsal ophthalmic artery and enters the eye cup through the optic (choroid) fissure; the hyaloid artery is contained within the optic stalk of the eye, extends from the optic disc through the vitreous humor to the lens, and serves to supply nutrients to the developing lens in the growing fetus; it usually regresses (around 2 weeks after birth in mice and before birth in humans), with its proximal portion remaining as the central artery of the retina; regression of the hyaloid artery leaves a clear central zone through the vitreous humor, called the hyaloid canal or Cloquet's canal
abnormal metanephros morphology any structural anomaly of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord; the metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine
increased apoptosis greater than normal programmed cell death
phlebitis A vein disease that is characterized by inflammation of a vein.
enhanced coordination improved ability to execute integrated movements of muscle
abnormal meiotic spindle assembly checkpoint an anomaly in the process that normally prevents inaccurate segregation of chromosomes by inhibiting cell-cycle progression in response to a signal generated by meiotic spindle damage or by chromosomes that have not attached to microtubules
increased uterine nk cell number increased cell number of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy
increased macrophage apoptosis greater incidence of cell death in macrophages
abnormal placental labyrinth vasculature morphology any structural anomaly of blood vessels of the layer of the placenta where embryonic and maternal blood exchange nutrients and waste products
macrocytosis condition in which erythrocytes are larger than normal in size
aortic aneurysm An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.
abnormal lower lip morphology any structural anomaly of the muscular fold bounding the opening of the mouth inferiorly
retinal gliosis increased proliferation of neuroglia in a damaged area of the retina that may lead to the formation of scar tissue
split sternal manubrium the appearance of an abnormal division of the cranial most segment of the sternum
abnormal nail matrix morphology any structural anomaly of the nail-forming area of the nail bed comprised of a germinal matrix, responsible for most of the nail production, and the sterile matrix, a secondary site of nail production which is tightly adherent to the nail plate
decreased mast cell number fewer than expected number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation
abnormal circulating ferritin level deviation from the normal concentration of ferritin, a ubiquitous intracellular protein that stores iron and releases it in a controlled fashion; some ferritin is also found in the blood and is measured in tests for overall iron levels, anemia and chronic diseases
increased interleukin-5 secretion increase in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells
ocular albinism
nonconvulsive seizures seizures without uncontrolled motor activity, but with impairment of consciousness
increased urine bicarbonate level
vestibular ganglion degeneration loss of the group of bipolar sensory nerve cell bodies concerned with equilibration that form a swelling on the vestibular part of the eighth cranial nerve in the fundus of the internal acoustic meatus
wide sternum an increase in the width of the long flat bone of the chest that articulates with the clavicle and first seven rib pairs
abnormal umbilical vein morphology any structural anomaly of the vein that returns oxygenated blood from the placenta to the fetus through the umbilical cord
abnormal t-helper 2 physiology abnormal function of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy
weakness state of being infirm or less strong than normal
absent interdental cells absence of the long, spindle-shaped cells arranged in parallel rows, oriented with their vertical axis perpendicular to the luminal surface of the spiral limbus; they secrete potassium ions into the endolymph and secrete the tectorial membrane
steatorrhea
abnormal klrg1+ cd4 alpha beta t cell number anomaly in the number of CD4+ alpha beta T cells that express KLRG1, a marker of effector/memory and regulatory T cells
decreased thymocyte number fewer than expected number of immature T cells located in the thymus
abnormal immune cell physiology any functional anomaly of the cells of the immune system
increased angiogenesis enhanced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network
decreased platelet cell number
abnormal vagina epithelium morphology any structural anomaly of the epithelial layer of the vagina
decreased testis weight reduced average weight of the male reproductive glands
prolonged estrous cycle increase in the length of the estrous cycle
abnormal oval cell physiology any functional anomaly of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes
abnormal vasculogenesis aberrant process of the initial establishment of the vascular network
abnormal long bone hypertrophic chondrocyte zone anomaly of the layer of the epiphyseal plate of a long bone where chondrocytes mature and enlarge
abnormal hair cycle anagen phase anomaly in the growth phase of the hair cycle
decreased circulating noradrenaline level less than the normal blood amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine
decreased gonadotroph cell number reduced number of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH)
decreased pulse pressure decrease in the difference between systolic and diastolic blood pressure
increased granulocyte number greater than expected number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils
small basisphenoid bone reduced size of part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone
abnormal kidney lobule morphology any structural anomaly of the portion of a renal lobe consisting of nephrons grouped around a single medullary ray and draining into a single collecting duct; human kidneys have multilobular, multipapillary architecture while mice and rats have unilobular, unipapillary kidneys
vagina hypoplasia
decreased systemic arterial diastolic blood pressure abnormal decrease in the pressure in the arteries between heart beats when the heart is relaxed
abnormal placenta physiology any functional anomaly of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin
umbilical artery stenosis abnormal constriction or narrowing of one or both umbilical arteries that carry deoxygenated, nutrient-depleted blood from the fetus to the placenta
abnormal prostate gland physiology any functional anomaly of the gland in males that secretes part of the seminiferous fluid
decreased diameter of tibia reduced width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge
prolonged rr interval increase in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate
abnormal bulbourethral gland morphology any structural anomaly of any of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; they secrete a clear fluid known as pre-ejaculate (Cowper's fluid), and are homologous to the greater vestibular (Bartholin's) glands in the female
hypervolemia An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood.
abnormal renal vascular resistance deviation from the normal force opposing blood flow in the kidney blood vessels
abnormal purkinje cell innervation any structural anomaly of the supply of nerve fibers that connect to the Purkinje cells
abnormal q wave any anomaly in the downward deflection in the ECG occurring after the PR interval that represents depolarization of the interventricular septum
pyloric sphincter hypertrophy increase in the bulk size of the thick circular layer of gastric musculature encircling the gastroduodenal junction at the gastric outlet of the stomach, due to cell enlargement or accumulation of fluids
abnormal vertebrae number
decreased circulating phospholipid level reduced concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group
increased urine ammonia level a greater amount of ammonia in the urine compared to the normal state
abnormal female reproductive system morphology any structural anomaly of the organs associated with producing offspring in the gender that bears the offspring
abnormal lymphatic vessel endothelium morphology any structural anomaly of the thin layer of flat cells that line the lymphatic vessels and form a barrier between circulating lymph in the lumen and the rest of the vessel wall
abnormal cuticular plate morphology any structural anomaly of the firm laminar network of actin filaments in the organ of Corti to which the apical ends of the cochlear hair cells attach and through which their stereocilia project
abnormal hepatobiliary system development developmental anomaly of any of the tissues of the liver or biliary system
abnormal cardiogenic plate morphology any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube
increased intestinal adenocarcinoma incidence higher than normal incidence of a malignant neoplasm of epithelial cells in the intestine
increased cellular sensitivity to x-ray irradiation increased incidence of cell death following exposure to X-ray irradiation
thickened cerebral cortex increased depth of the mantle covering the surface of the cerebral hemispheres
absent nodose ganglion absence of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve)
abnormal response to stress-induced hyperthermia any anomaly in the expected increase in core body termperature in response to stress or anticipatory anxiety
increased circulating glucocorticoid level greater than normal blood concentration of the corticosteroids regulating carbohydrate metabolism and exhibiting anti-inflammatory activity
abnormal eye pigmentation change in the normal pigmentation of the eye to another color, or lack of color
increased trophectoderm apoptosis increase in the number of trophectoderm cells undergoing programmed cell death
decreased myelin sheath thickness decrease in the depth of the insulating envelope that surrounds nerve fibers or axons
abnormal exocrine pancreas morphology any structural anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes
streak gonad impairment of genital ridge development; aplasia of gonadal tissue which is sometimes replaced with functionless tissue
absent reichert cartilage absence of the cartilage normally found in the mesenchyme of the second branchial arch in the embryo, from which develop the stapes, the styloid processes, the stylohyoid ligaments, and the lesser cornua of the hyoid bone
increased circulating estradiol level greater than the normal blood concentration of this most potent naturally occurring estrogen in mammals
decreased purkinje cell number fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex
abnormal tail length any anomaly in the length of tail relative to average of a given reference population
abnormal eyelid fusion anomaly in the process by which the upper and lower eyelids are joined during development
absent cardiac neural crest cells absence or loss of the cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia; ablation of cardiac NCCs results in cardiac outflow defects
abnormal cell nucleus count absent or greater than one nuclei present per cell body when one is expected; often due to failed cytokinesis or events leading to apoptosis
increased circulating triglyceride level greater concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver
pyuria
thin sperm flagellum reduced thickness of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility
reduced sensorimotor gating attenuation of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI)
abnormal pharyngeal arch development abnormal formation of the of the transient structures of the embryo that develop into regions of the head, neck and ears
abnormal mucosal lining of the mouth any structural anomaly of the mucus -secreting tissue that lines the oral cavity
abnormal vestibular dark cell morphology any structural anomaly in the nonsensory epithelial cells located above the vestibular melanocytes and adjacent to the sensory structures in the utricle and in the ampullae at the ends of each of the semicircular canals; these cells provide and maintain the high potassium ionic environment within the vestibular labyrinth and are therefore homologous to the marginal cells of the stria vascularis; they are joined to each other by tight junctions and provide a barrier between endolymph and perilymph
abnormal carotid artery morphology any structural anomaly of the bilaterally paired branched arteries that deliver oxygenated nutrient filled blood from the heart to the head, neck, and brain; of the two common carotid arteries, which extend headward on each side of the anterior neck, the left originates in the arch of the aorta over the heart; the right originates in the brachiocephalic trunk, the largest branch from the arch of the aorta; each common carotid artery divides into an external and an internal carotid artery near the top of the thyroid
abnormal muscle relaxation altered ability of the muscle to lengthen following contractions
abnormal meiosis anomaly in the process of nuclear division that results in gametes with one half the normal number of the original cell
increased circulating fructosamine level increase in the concentration in the blood of total non enzymatic glycated proteins in the blood
chylothorax Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.
abnormal sperm annulus morphology any structural anomaly of the ring-like, filamentous structure located at the distal end of the midpiece of the sperm flagellum; the annulus is thought to form a diffusion barrier between the midpiece and the principal piece and serve as a stabilizing structure for tail rigidity
abnormal nicotine-mediated receptor currents change in the measured amplitude, current density or duration of response to stimulation of nicotinic receptors
abnormal thyroid physiology
abnormal mhc ii cell surface expression on macrophages anomaly in the ability of macrophages to express major histocompatibility complex class II at the cell surface
abnormal langerhans cell physiology atypical or failure of normal function of the stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus
absent molars Agenesis of molar tooth.
abnormal brain size deviation from the average range of brain size for an organism
decreased interleukin-23 secretion reduction in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells
abnormal circulating fibrinogen level deviation from the normal levels in the blood of a globulin that is converted into fibrin by the action of thrombin in the presence of ionized calcium to produce coagulation of the blood
increased memory t cell number increase in the number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive
abnormal xenobiotic pharmacokinetics any anomaly in the absorption, distribution, metabolism or elimination of a foreign compound
abnormal parathyroid gland morphology any structural anomaly of one of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism
absent hallux Aplasia of the hallux, that is, a development defect such that the big toe does not develop.
abnormal z lines any structural anomaly in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere
decreased corpus callosum size smaller thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres
abnormal nitric oxide homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of nitric oxide, a free radical gas and a potent vasodilator
increased circulating renin level An increased level of renin (PRO:000013883) in the blood.
decreased cell proliferation reduction in the expansion rate of a cell population by cell division
abnormal leukocyte adhesion anomaly in the number of or process by which leukocytes adhere to the luminal aspects of high endothelial venules prior to transmigration out of the vessel
abnormal cerebellum anterior lobe morphology any structural anomaly of the region of the cerebellum that is anterior to the primary fissure
abnormal nasal capsule morphology any structural anomaly in the cartilage around the developing nasal cavity of the embryo
abnormal megakaryocyte differentiation atypical production of or inability to produce of a giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm
small pancreas decrease of the size of the pancreas compared to controls
abnormal neocortex morphology any structural anomaly of the larger part of the mammalian cerebral cortex, distinguished from the allocortex by being composed of a larger number of nerve cells arranged in six layers
abnormal carotid body physiology any functional anomaly in a small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control
absent hippocampal fimbria absence of the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which eventually thickens to form the fornix and fibers of the hippocampal commissure
absent lungs absence of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs
stomach epithelial hyperplasia overdevelopment or increased size, usually due to an increase in the number of cells, of the epithelial layer of the stomach
abnormal platelet dense granule number altered number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin
small lens reduced size of the transparent structure of the eye responsible for focusing light rays
abnormal circulating interferon-beta level anomaly in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity
enlarged heart left atrium increased size of the left upper chamber of the heart
hemivertebra Absence of one half of the vertebral body.
anisopoikilocytosis A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.
parathyroid gland hyperplasia
abnormal potassium ion homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of potassium ions within the body or between a cell and its external environment
increased sterol level greater level of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated
increased striatum area greater size of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking
abnormal podocyte physiology any functional anomaly of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane
short estrous cycle decrease in the length of the estrous cycle
abnormal supraoccipital bone morphology any structural anomaly of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young
abnormal enteroendocrine cell morphology any structural anomaly of the various hormone- or neurotransmitter-secreting epithelial cells present throughout the mucosa of the digestive tract
abnormal adrenocortical cell morphology any structural anomaly of the steroid hormone-producing cells of the cortex of the adrenal gland
decreased embryo weight reduced weight of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis)
increased mature b cell number greater number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex
abnormal preimplantation embryo development an anomaly in the developmental progress of an embryo from 2 cell to blastocyst affecting the viability or number of embryos
abnormal adrenergic chromaffin cell morphology any structural anomaly of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion
abnormal gluconeogenesis anomaly in the formation of glucose from non-carbohydrates, such as proteins or fat
split vertebrae any vertebrae or vertebral section that is cleft into two parts
abnormal extraglomerular mesangium morphology any structural anomaly of the tissue comprised of mesangial cells that fill the triangular space between the macula densa and the afferent and efferent arterioles of the juxtaglomerular apparatus
ectopic sertoli cells abnormal position of the supporting cells of the seminiferous tubule epithelium that create the blood-testes barrier and enable spermatogenesis
abnormal maternal nurturing anomaly in the behaviors related to a female tending to young
absent hippocampus ca3 region
increased curvature of guard hairs greater bending arch of the guard hairs
synostosis A dysostosis that results_in abnormal fusing of adjacent bones.
decreased quadriceps weight reduction in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint
long ribs increased length of the bones forming the bony wall of the chest
abnormal erythropoietin level anomalous fluid or tissue concentration of a sialic acid-containing glycoprotein hormone that enhances erythropoiesis and participates in wound healing; it is formed in the kidney and liver and can be detected in plasma and urine
endophthalmitis A globe disease that is characterized by inflammation of the inside of the eye.
decreased basophil cell number lower than average number of basophils as measured by the percent of the total number of leukocytes
abnormal eye muscle development malformation or arrest of differentiation of the muscles of the eye
abnormal mandibular angle morphology any structural anomaly of the portion of the mandible where the body of the mandible (horizontal portion) and the rami (perpendicular portions) meet; these normally unite nearly at right angles
common atrioventricular valve the presence of a single atrioventricular valve instead of both a mitral and tricuspid valve, most commonly due to incomplete or failure of fetal atrioventricular canal septation
large intestinal inflammation local accumulation of fluid, plasma proteins, and leukocytes in the large intestine
abnormal memory b cell number anomaly in the number of distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin
transposition of great arteries cardiovascular structural anomaly in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle
abnormal pectoral girdle bone morphology any structural anomaly of the bones of the shoulder by which the limbs attach to the axial skeleton
cecal atresia congenital blockage or absence of the lumen of the cecum
abnormal blood urea nitrogen level aberrant circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function
abnormal sperm number increased or decreased numbers of spermatozoa
growth/size/body phenotype
decreased enterocyte cell number fewer than expected number of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen
increased systemic vascular resistance increase in the normal force opposing blood flow in the peripheral blood vessels
fetal growth retardation slow or limited development during the fetal period (sensu Mus: from E14 through birth)
impaired contractility of ileal smooth muscle inability or reduced ability of the ileal smooth muscle to shorten or to develop increased tension
urinary bladder fibrosis invasion of fibrous connective tissue into the urinary bladder, often resulting from inflammation or injury
abnormal pancreatic beta cell morphology any structural anomaly of a cell that secretes insulin and is located towards the center of the islets of Langerhans in the pancreas
persistent hyaloid artery incomplete regression of the hyaloid artery, usually accompanied by persistence of the hyperplastic primary vitreous; small remnants of the artery may remain with free remnants sometimes seen as floating material (aka muscae volitantes); an anterior remnant of the hyaloid artery can be seen as Mittendorf's dot, a small pinpoint-like scar on the posterior surface of the lens; a posterior remnant may be seen where the artery left the optic disc, and is known as Bergmeister's papilla
small inguinal lymph nodes reduced size of the lymph nodes located in the groin area
abnormal thermal nociception abnormal capability to sense pain elicited by thermal stimulation
coloboma An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
abnormal sex gland morphology any structural anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction
granular kidney a kidney in which fairly uniform, diffusely and evenly situated foci of scarring of the interstitial tissue of the cortex (and sometimes scarring of glomeruli), and the associated slight degree of bulging of groups of dilated tubules, leads to the development of a minutely bosselated surface; such kidneys are seen in arteriolar nephrosclerosis or chronic glomerulonephritis
decreased susceptibility to dopaminergic neuron neurotoxicity less than normal amount of dopaminergic neuronal cell death following exposure to a neurotoxic compound, such as MPTP-induced cell death occurring through interference in mitochondrial metabolism
abnormal innate avoidance response any anomaly in the naive behavioral response of an individual to an aversive stimulus, in which the tendency to act defensively is stronger than the tendency to attack
abnormal intersomitic artery morphology any structural anomaly of the small branching sprouts of the dorsal aorta that grow across the medial surface of the somite, turn right angles to grow over that surface and then fuse with other sprouts and form the vertebral arteries adjacent to the neural tube; the intersomitic arteries supply the body wall and persist in the adult as the posterior intercostal, subcostal and the lumbar arteries
partial preweaning lethality the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)
abnormal mammary gland lobule morphology any structural anomaly of a group of alveoli and the intralobular portion of the terminal duct of the mammary gland
abnormal compact bone area anomaly in the total amount of cross-sectional area of compact bone tissue
increased urine uric acid level
abnormal embryonic erythrocyte morphology any structural anomaly of the embryonic blood cells that carry oxygen; embryonic erythrocytes arise from yolk sac blood islands and express different types of hemoglobins (beta-H1, gamma-1 and zeta) than adult erythrocytes, and can enucleate in circulation
increased hyoid bone size greater size of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles
increased thyroid c-cell carcinoma incidence greater than the expected number of a malignant neoplasm derived from the calcitonin producing C-cells of the thyroid gland, occurring in a specific population in a given time period
delayed kidney development late onset of the induction and/or differentiation of the kidney
absent ovarian follicles absence of the sac-like structure in the ovary which surrounds an ovum
decreased airway responsiveness less easily provoked into bronchoconstriction during bronchial provocation testing
early eyelid opening early average time for the first postnatal eye opening
absent endocochlear potential absence of the electrical potential difference between the endolymphatic and perilymphatic compartments of the cochlea, indicating a primary defect in fluid homeostasis of the inner ear
decreased pre-b cell number reduced number of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface
decreased insulin secretion reduction in the production or release of the hormone secreted by beta cells of the pancreas that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids
variegated coat color an irregular and random patchwork of two or more colors in the coat
fused phalanges anomaly of the long bones of the digits resulting in some or all the bones being joined together
split cervical axis the second cervical vertebra (C2) is divided into two branches by a median cleft
patent tricuspid valve the tricuspid valve remains open during the cardiac cycle
abnormal pheomelanosome morphology any structural anomaly of the oval-shaped pigment organelles that synthesize and store pheomelanin (yellow) pigment, which is deposited in dense granular deposits within pheomelanosomes
abnormal adrenal cortex morphology any structural anomaly of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone
abnormal salivary gland physiology any functional anomaly of any of the glands in the mouth that secrete saliva
abnormal heart weight anomaly in the average weight of the heart compared to controls
decreased activation-induced cell death of t cells decreased frequency of the type of T cell apoptosis that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen and is triggered by T cell receptor stimulation and signals transmitted via various surface-expressed members of the TNF receptor family such as Fas ligand, Fas, and TNF and the p55 and p75 TNF receptors
increased thecal cell number greater than normal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle
abnormal long lived plasma cell morphology any structural anomaly of a fully differentiated plasma cell that lives for years, as opposed to months, secretes immunoglobulin, and has the phenotype weakly CD19-positive, CD20-negative, CD38-negative, strongly CD138-positive, MHC Class II-negative, surface immunoglobulin-negative, IgD-negative, and strongly CXCR4-positive; the majority of these cells of this type reside in the bone marrow
abnormal hair cell morphology any structural anomaly of the sensory epithelial cells of the inner ear
abnormal hindlimb zeugopod morphology any structural anomaly of the distal elements of the hindlimb including the tibia and fibula
abnormal ventral coat pigmentation irregular or unusual pigmentation of ventrum hair in relation to control animals
decreased ventricle muscle contractility reduced ability of the heart ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume
increased circulating levels of thyroid hormone increased concentration of hormones in the blood that are synthesized and secreted by the thyroid
increased pancreas iron level increase in the amount of iron present in the pancreas tissue
abnormal acrosome reaction abnormality in the cellular exocytosis of a single, anterior secretory granule following a sperm's attachment to the zona pellucida surrounding an oocyte
abnormal entorhinal cortex morphology any structural anomaly of the structure in the anterior parahippocampus that lies forward of the parahippocampal cortex and immediately medial to the perirhinal cortex, bounded superiorly by the hippocampus and inferiorly by the collateral sulcus
prolonged metestrus increase in the length of the metestrous phase of the estrous cycle in female animals
decreased sternebra number reduced average number of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum
increased keratinocyte apoptosis increase in the number of keratinocytes undergoing programmed cell death
decreased circulating calcium level
mesocardia Mesocardia is a abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.
abnormal salivary gland duct morphology any structural anomaly of the tubular canals that carry saliva
photoreceptor outer segment degeneration retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin
abnormal osteoblast cell number deviation from the average number of the skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell
abnormal sensory neuron physiology any functional anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses
abnormal circumvallate papillae morphology any structural anomaly of the large papillae, which have multiple taste buds in the trough surrounding the papillae, located near the base and on the dorsal side of the tongue
thick pulmonary interalveolar septum increased width of the tissue intervening between two adjacent pulmonary alveoli, which consists of the basement membranes of alveolar-lining epithelium (mostly type I pneumocytes) and capillary endothelium
decreased tracheal cartilage ring number less than the 16-20 incomplete rings of hyaline cartilage forming the skeleton of the trachea
abnormal skin adnexa physiology any functional anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails
abnormal thecal cell number abnormal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle
increased lens fiber apoptosis increase in the number of lens fibers cells undergoing programmed cell death
abnormal fibroblast proliferation anomaly in the ability of the a fibroblast cell population to undergo expansion by cell division
absent styloid process absence of the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone to join the tympanic portion
increased quadriceps weight increase in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint
endometrium atrophy acquired diminution of the size of the uterine endometrium, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
abnormal chordamesoderm morphology any structural anomaly of the area of axial mesoderm that develops into the notochord
salt-sensitive hypertension sustained high blood pressure that is maintained with a normal or increase in the amount of salt consumed in the diet; blood pressure may return to normotensive with a low salt diet
increased fetal cardiomyocyte apoptosis increase in the number of fetal cardiomyocytes undergoing programmed cell death
impaired ureteric peristalsis any anomaly in the wavelike sequence of involuntary muscular contraction and relaxation that passes along the ureter, thus propelling urine from the kidney pelvis to the urinary bladder
abnormal craniofacial development anomaly in the process of forming the face and/or cranium
abnormal urine creatinine level any change in the amount of creatinine in the urine
dilated seminiferous tubules the luminal space of the seminiferous tubules is increased in volume or area, usually with an increase in contained fluid
abnormal pulmonary alveolar parenchyma morphology any structural anomaly of the distinguishing cell types of the lung alveolar tissue, including pulmonary epithelial cells (pneumocytes), alveolar capillary endothelial cells, interstitial cells (fibroblasts) and alveolar macrophages
absent kidney medulla failure of the inner portion of the kidney, normally consisting of the renal pyramids, to form
abnormal hepatic diverticulum morphology any structural anomaly of the out-pocket of thickened ventral foregut epithelium adjacent to the developing heart that constitutes the first morphological sign of the embryonic liver
abnormal branching involved in preterminal bronchiole morphogenesis anomaly in the process in which the branched structure of the preterminal bronchioles are generated and organized
abnormal antigen presentation via mhc class ii anomaly in the process by which peptide, bound to major histocompatibility complex class II, is presented to lymphocytes at the surface of antigen presenting cells
absent cochlear inner hair cells absence of the single row of flask-shaped inner hair sensory cells of the organ of Corti
increased circulating interleukin-9 level increase in the amount in the blood of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells
increased liver free fatty acids level elevated liver concentrations of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues
abnormal mitochondrial shape An anomaly in the surface contour of mitochondria.
absent b-1b cells
decreased b-1 b cell number
abnormal parietal yolk sac morphology any structural anomaly of the tissue that consists of two cellular layers (parietal endoderm and trophoblast) separated by a relatively thick nonvascular basement membrane (Reichert's membrane), and acts as a protective layer to supports and facilitates transport of nutrients between the uterine tissue and the yolk sac cavity
belly spot the appearance of a round area of white fur on the belly
abnormal kidney mesenchyme morphology any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing kidney
absent brain ependyma motile cilia absence of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid
abnormal blood coagulation altered ability or inability of the blood to clot
abnormal pup retrieval any anomaly in the ability of a nesting female to retrieve stray pups to the nest or a delay in retrieving stray pups
mitral valve atresia A congenital defect with failure to open of the mitral valve orifice.
small endometrial glands decrease in the average size of the simple or branched tubular glands located in the mucous membrane of the uterus
abnormal eating frequency anomaly in the number of discrete instances of initiation of eating over time, regardless of amount eaten
absent dentate gyrus lack of the section of the hippocampus normally situated above the gyrus hippocampi and composed of three layers, the molecular, granular, and polymorphic layers
abnormal kidney afferent arteriole morphology any structural anomaly of the blood vessels that branch from the kidney interlobular artery, convey blood to the glomerular capillaries, and play an important role in the regulation of blood pressure as a part of the tubuloglomerular feedback mechanism
decreased susceptibility to autoimmune hemolytic anemia reduced likelihood that an organism will develop an abnormality of the immune system that destroys red blood cells (hemolysis) prematurely
epidermal atrophy acquired diminution of the size of epidermal layer of the skin, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
abnormal limb bud morphology any structural anomaly of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs
absent follicular b cells absence of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes
abnormal olfactory tract morphology any structural anomaly of the nerve-like, white band composed primarily of nerve fibers originating from the mitral cells and tufted cells of the olfactory bulb, but also containing the scattered cells of the anterior olfactory nucleus
impaired skin barrier function impaired ability of the skin to regulate water loss; frequently leads to dehydration
abnormal extraembryonic coelom morphology any structural anomaly of the fluid-filled spaces formed within the mass of extraembryonic mesoderm that later fuse to become a large extraembryonic cavity
dilated terminal bronchiole tubes stretched or widened aperture of the luminal space of the terminal lung buds
abnormal cerebellum vermis lobule vii morphology In rodents, vermis lobule VII is a single structure. In humans, it is cleft by the horizontal fissure into distinct folium (VIIa) and tuber (VIIb) lobules.
abnormal pulmonary artery morphology any structural anomaly of the artery that arises from the right ventricle and conveys unaerated blood to the lungs
abnormal median eminence morphology any structural anomaly of the raised area at the infundibular region of the neurohypophysis where the secretions of the hypothalamic neurons (releasing and inhibiting regulatory hormones) collect before entering the capillary network of hypophyseal portal system
abnormal thymus development anomaly in the formation and/or differentiation of the thymus
persistent truncus arteriosus type ii complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches from the posterolateral aspect of the common arterial trunk
increased susceptibility to otitis media greater likelihood of middle ear inflammation, with an accumulation of a thick, mucous-like fluid; usually associated with a viral or bacterial respiratory infection
increased neuroblastoma incidence greater than the expected number of a malignant neoplasm characterized by immature nerve cells of embryonic type, occurring in a specific population in a given time period
persistent truncus arteriosus type iv complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type i is a form of the lesion with neither pulmonary arterial branch arises from the common trunk, and is more commonly recognized to be a form of pulmonary atresia with ventricular septal defect rather than truncus arteriosus
abnormal circulating cytokine level deviation from the normal levels in the blood of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells
abnormal inner ear canal fusion any structural anomaly or mistiming of the fusion of the canal primordia during development
decreased cellular sensitivity to ionizing radiation decreased incidence of cell death following exposure to ionizing radiation
abnormal electroretinogram waveform feature any anomaly in the pattern of the graphic record of the integrated ensemble response from many vision related neuronal and glial populations as a consequence of the serial processing within the retina, represented as changes in voltage over time after visual photonic stimulation
decreased p wave amplitude reduction in the size (height or maximum displacement) of the P wave
abnormal thyroxine level any anomaly in the concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism
abnormal dental pulp morphology any structural anomaly of the soft tissue within the pulp cavity located in the center of a tooth, comprised of living connective tissue containing blood vessels, nerves and lymphatics, and a layer of odontoblasts at the periphery, which participate in dentin repair
increased nk t cell number greater number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments
decreased mature ovarian follicle number fewer than normal numbers of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle
detached sperm flagellum fragmentation of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility from the sperm head
abnormal angiogenesis aberrant process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network
abnormal dna methylation any anomaly in the covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine of DNA
enlarged parietal bone increased size of the curved bone forming part of the vault of the cranium
enlarged hind paws larger than average size of the rear feet
abnormal lactate dehydrogenase level abnormal level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate
abnormal uterine nk cell physiology any functional anomaly of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy
abnormal vascular endothelial cell development anomaly in the differentiation of the cells that line the vasculature
abnormal rathke's pouch development any anomaly in the formation of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland
umbilical vein stenosis abnormal constriction or narrowing of the unpaired umbilical vein that carries oxygenated, nutrient-rich blood from the placenta to the fetus
abnormal behavior any anomaly in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls
abnormal brain pia mater morphology any structural anomaly of the fibrous membrane forming the innermost of the three coverings that surrounds the brain within the cranial cavity that is firmly attached to the glial capsule
abnormal heart left ventricle morphology any structural anomaly of the left lower chamber of the heart
decreased single cell response threshold reduction in the value at which a stimulus first elicits a recordable response recorded in a single cell
abnormal perianal sebaceous gland morphology any structural anomaly of the modified holocrine gland that is part of the pilosebaceous unit of a hair located in the area around the anus; each of the specialized large hair follicles that surround and form a network around the anus has a pair of large sebaceous glands that empty into the follicle; perianal glands may function as scent glands
abnormal x-zone morphology any structural anomaly of the transient cortical layer juxtaposed to the medulla and the zona reticularis; in males, this zone rapidly involutes at the onset of puberty whereas this zone persists in females until the first pregnancy or later in adulthood in non-pregnant females
abnormal strial intermediate cell morphology any structural anomaly in the melanocytes known to migrate from the neural crest during ontogeny to become located between the epithelial marginal cell layer and the mesodermal basal cell layer within the intrastrial space; the predominant cellular component of the electrogenic machinery that generates an endocochlear potential (80-100 mV)
short mandible reduced length of the lower bony framework of the mouth where the inferior teeth are held
low mean erythrocyte cell number less than average numbers of red blood cells
hyperoxaluria Increased excretion of oxalates in the urine.
abnormal cardiac muscle relaxation altered ability of the cardiac/heart muscle to lengthen following contractions, often measured by dP/dt min
absent epidermis missing the epidermal cell layer in the skin
colon polyps abnormal tissue masses that protrude into the lumen of the colon and are tethered to the wall of the colon
optic nerve cupping concave shape of the nerve often as a result of the force of pressure from glaucoma
impaired conditioning behavior impaired ability to change behavior in response to a reward or punishment each time an action is performed
increased long bone epiphyseal plate size greater than the normal size of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles
preference for addictive substance strong predilection for an addictive substance
abnormal anterior visceral endoderm cell migration any anomaly in the movement of the cells of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue
abnormal quadriceps weight anomaly in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint
abnormal blood circulation failure or atypical movement in the flow of blood from the heart to the vasculature and back to the heart
hepatic steatosis The presence of steatosis in the liver.
abnormal tooth development any anomaly in the formation of the teeth
abnormal lymph node t cell domain morphology any structural anomaly of the paracortex and interfollicular cortex of the lymph node in which T lymphocytes home to survey dendritic cells; T lymphocytes proliferate in the paracortex and enlarge it but do not produce structures analogous to germinal centers
pancreatic acinar cell zymogen granule accumulation a gradually increasing number of membrane-bounded, cytoplasmic secretory granules found in pancreatic acinar cells that contain inactive digestive enzyme precursors
abnormal tail pigmentation anomaly in the coloration of the tail due to changes in the amount, shape, or distribution of cells producing pigment
ventricular tachycardia
abnormal kidney corticomedullary boundary morphology any structural anomaly of the region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary
sphingomyelinosis
decreased interleukin-15 secretion reduction in the production or release of a cytokine that stimulates the proliferation of T-cells and can induce proliferation and differentiation of B-cells; interleukin-15 shares biological activities with interleukin-2
absent strial marginal cells absence or loss of the polarized columnar cells of epithelial origin which cover the lateral surface of the cochlear duct, secrete potassium ions and form a continuous sheet in contact with the endolymph
broad limb buds increased anterior-posterior width of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs
abnormal hepatocyte physiology any functional anomaly of the main structural specialized epithelial cells which normally organize into interconnected plates called lobules
decreased anterior commissure size reduced size of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle
increased macrophage derived foam cell number greater than normal number of a type of macrophage containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions
increased susceptibility to fungal infection greater likelihood that an organism will develop ill effects from infection by a yeast or mold, or from components of, or toxins produced by, these organisms
abnormal larynx morphology any structural anomaly of the organ of voice production located between the pharynx and the trachea
fused outer hair cell stereocilia coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear outer hair cells, often resulting in giant stereocilia
increased circulating plant sterol level increase in the amount of phytosterols in the blood; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol
abnormal cardiac ganglion morphology any structural anomaly of the parasympathetic ganglia of the cardiac plexus between the arch of the aorta and the bifurcation of the pulmonary artery
abnormal central nervous system regeneration changes in the ability or inability of healthy central nervous system tissue to regenerate following injury or disease
increased heart rate A rapid heartrate that exceeds the range of the normal resting heartrate for age.
decreased interleukin-4 secretion reduction in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells
enhanced wound healing increased ability to self-repair and close wounds
abnormal otic vesicle morphology any structural anomaly of the paired sacs of invaginated ectoderm that develop into the membraneous labyrinth of the inner ear
growth retardation of incisors developmental delay of the growth of the incisors, the long pointed teeth, most anterior and prominent in the jaw
abnormal zona pellucida morphology any structural anomaly of the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation
abnormal spongiotrophoblast cell morphology any structural anomaly of a trophoblast cell that arises in the junctional zone of the placenta
hypotonia Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
translucent skin An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.
abnormal copulation an anomaly in sexual union that normally enables the transfer of ejaculate (sperm) from male to female, sometimes resulting in the fertilization of an egg
abnormal stomach ph anomaly in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, as measured by the concentration of the hydrogen ion
increased thymus weight greater than average weight of the primary lymphoid organ that is required for maturation of T cells
abnormal memory t cell morphology any structural anomaly of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive
abnormal parahippocampal gyrus morphology any structural anomaly of the ridge in the cerebral cortex that contains the olfactory cortex and that plays a role in the formation of topographical memory
esophageal atresia
decreased frequency of paradoxical sleep decreased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity
abnormal water content more or less than the normal total amount of water retained in the body
altered response to myocardial infarction change in the physiological response to necrosis of the cardiac tissue, often resulting from the sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors
vestibular dark cell degeneration degeneration or loss of the nonsensory epithelial cells that lie adjacent to the sensory structures in the utricle and in the ampullae at the ends of each of the semicircular canals
ecchymosis
delaminated cerebellar granule layer splitting or disorganization of the deepest of the three layers of the cerebellum that contains granule cells
aciduria Ecretion of urine with an acid pH.
abnormal inner hair cell stereociliary bundle morphology any structural anomaly or disruption of the typically linear or U-shaped pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear IHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia
abnormal kidney medulla development anomaly in the differentiation of the inner portion of the kidney consisting of the renal pyramids
small pubis reduced size of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis
increased circulating bilirubin level increased concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells
blindness
abnormal circadian temperature homeostasis any anomaly in the process in which an organism modulates its internal body temperature at different values with a regularity of approximately 24 hours
abnormal lambdoidal suture morphology any structural anomaly of the dense, fibrous connective tissue joint between the parietal bones and the occipital bone
abnormal conotruncus septation anomaly in the process in which the conotruncus separates into the conus cordis, which will give rise to the outflow regions of the ventricles, and the truncus arteriosus which will be divided into proximal ends of the ascending aorta and pulmonary trunk
slow aging later than normal occurrence of the normal signs of aging
abnormal thymus involution premature or late decline in thymic function normally associated with advancing age
digestive/alimentary phenotype
delayed tooth eruption Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
small thymus reduced size of the thymus
increased pulmonary vascular resistance
abnormal extraembryonic endoderm formation malformation of the endoderm of the extraembryonic tissue that appears prior to gastrulation and performs critical functions during embryogenesis including nutrient uptake and transport from the mother to the embryo
abnormal intestinal secretion any anomaly in the quantity or rate of any substance transported from intestinal cells into the lumen of the intestine
impaired mucociliary clearance reduced ability to remove mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands
impaired skeletal muscle contractility inability or reduced ability of the skeletal muscle to shorten or to develop increased tension
increased behavioral withdrawal response increase in the intensity or duration of behaviors displayed after discontinuation of an addictive substance
abnormal hepatoblast morphology any structural anomaly of the bi-potent cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into hepatocytes and cholangiocytes
abnormal upper lip morphology any structural anomaly of the muscular fold forming the superior border of the mouth
increased pancreas apoptosis increase in the number of cells of the pancreas undergoing programmed cell death
stomach inflammation
abnormal muscle electrophysiology any functional anomaly of the musculature as it relates to electrical phenomena
increased prepulse inhibition increase in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus
increased follicle stimulating hormone level greater than expected concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis
intermingled spleen red and white pulp no clear demarcation of the spleen red and white pulp tissue
abnormal otic ganglion morphology any structural anomaly of the ganglion that supplies nerve fibers to the parotid gland
vestigial tail a trace or rudimentary caudal structure, often a short boneless filament; the degenerated remains of any tail structure
decreased heart rate variability reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle
polyuria An increased rate of urine production.
absent germ cells absence of germ cells, that is, any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated
abnormal zone of polarizing activity morphology any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the anterio-posterior (A-P) axis
abnormal pluripotent precursor cell morphology/development any structural anomaly of the cells that give rise to most types of cells necessary for fetal development
abnormal cell-mediated immunity abnormal function of any adaptive immune response in which T cells play a main role
increased pre-b cell number greater number of progenitor cells that form the B cell component of the immune system
abnormal node of ranvier morphology any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon
decreased cellular sensitivity to hydrogen peroxide reduced incidence of cell death following exposure to hydrogen peroxide
decreased megakaryocyte cell number reduced number of giant cells 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm
abnormal atrioventricular cushion morphology any structural anomaly of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices and the atrioventricular septum
abnormal melanoblast migration any anomaly in the movement of the cells that originate from the neural crest and differentiate into pigment cells
abnormal circulating glucocorticoid level aberrant blood concentration of the corticosteroids regulating carbohydrate metabolism and exhibiting anti-inflammatory activity
abnormal gustatory system physiology any functional anomaly in the perception of taste
absent tarsus bones absence of the eight bones of the instep of the paw/foot: tibiale, talus, calcaneus, navicular, 3 cuneiform, and cuboid bones
abnormal cilium physiology any functional anomaly of the specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface; each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole
decreased mean systemic arterial blood pressure decrease in the average arterial pressure during a single cardiac cycle
abnormal temporal lobe morphology any structural anomaly of the lower lateral part of the cerebral hemisphere
absent extraembryonic ectoderm absence of the endoderm layer of the extraembryonic tissue
matted coat coat hairs sticks together to form clumps and does not lie flat
hair follicle outer rooth sheath hyperplasia overdevelopment or increased size, usually due to a increased number of cells, outermost layer of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb
abnormal eye anterior chamber depth anomaly in the distance between the iris and the cornea at the center plane (maximum distance) of the anterior chamber, compared to controls
absent paraxial mesoderm absence or loss of the mesoderm normally found at either side of the midline embryonic notochord that, on segmentation, forms the paired somites.
absent hair follicles missing epidermal invaginations from which the hair shaft develops
abnormal dorsal aorta morphology any structural anomaly of the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation
decreased sternebra size reduced average size of any of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum
myelofibrosis A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue.
absent third pharyngeal arch absence of the structure of the third are which contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus
decreased skeletal muscle fiber number decreased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles
abnormal endometrial gland number abnormal number of the simple or branched tubular glands located in the mucous membrane of the uterus
abnormal t-helper 1 cell differentiation atypical production of or inability to produce the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity
decreased compact bone area reduction in the total amount of cross-sectional area of compact bone tissue
meningomyelocele
decreased circulating carnitine level lower than normal blood concentration of this quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane
decreased systemic vascular resistance reduction in the normal force opposing blood flow in the peripheral blood vessels
increased susceptibility to induced colitis increased severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS)
abnormal hippocampal mossy fiber morphology absence or misprojection of axons of neuronal cells in the dentate gyrus
decreased hemoglobin content decrease in the total hemoglobin content in the circulating blood
abnormal secondary ovarian follicle number abnormal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers
abnormal immunoglobulin transcytosis any anomaly in the process of transporting immunoglobulin, via transcytosis, from one side of a cell to the other; occurs in epithelial cells and other cell types
abnormal urinary bladder physiology any functional anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys
abnormal eye physiology A functional anomaly of the eye.
short rostral-caudal axis length reduction or truncation of the axis that runs from the head to the tail of the body
decreased ventral ectodermal ridge size reduced size of the morphologically distinct group of ectodermal cells that serves as an important signaling center in the mouse tail-bud following completion of gastrulation, and contains progenitor cells that contribute to the ventral midline ectoderm of the tail
abnormal soft palate morphology any structural anomaly of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult
panniculitis
abnormal midgut morphology any structural anomaly of the portion of the embryonic gut between the foregut and the hindgut, which originally is open to the yolk sac
abnormal mitochondrial physiology any functional anomaly of the cellular organelles responsible for energy production
dilated scala media stretched or widened aperture of the luminal space of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani
decreased somite size reduced size of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo
abnormal behavioral response to cocaine any anomaly in the behavioral response induced by cocaine, such as induced hyperactivity or stereotypic behavior
abnormal flocculonodular lobe morphology any structural anomaly of the small region of the cerebellum that is posterior to the posteriolateral fissure in humans; it receives input from the inferior and medial vestibular nuclei and sends fibers back to the vestibular nuclei, and processes and integrates these signals to allow for the constant maintenance of balance
abnormal hair medulla anomalies of hair medullary cell formation and arrangement of the innermost core of the hair shaft
reproductive system inflammation local accumulation of fluid, plasma proteins, and leukocytes in any of the reproductive organs
abnormal effector memory cd4-positive, alpha-beta t cell morphology any structural anomaly of a CD4-positive, alpha-beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative
increased duodenum adenocarcinoma incidence
abnormal chemokine secretion anomaly in the production or cellular release of any of the class of pro-inflammatory cytokines that attract and activate leukocytes
increased vagal neural crest cell apoptosis increased number of vagal neural crest cells (NCCs) undergoing programmed cell death
abnormal synaptic transmission An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.
small pituitary intermediate lobe reduced size of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults
abnormal podocyte motility any anomaly in the ability of podocyte foot processes (FPs) to retract or elongate and hence move quickly along the glomerular basement membrane (GBM); motility refers to the dynamic reorganization of the interdigitating FP structure in vivo , and to the cell migration of cultured podocytes in vitro that is seen as surrogate for the former; alterations in podocyte motility are considered to underlie foot process effacement, with changes in the leading edge of the cell and its interactions with the GBM; a rather stationary podocyte phenotype is believed to reflect a stable FP structure with intact slit diaphragms, whereas hypermotility is believed to promote the development of FP effacement and proteinuria
abnormal skin coloration a variation in an expected skin color or complexion that may be due to inflammation, pigment defects or other causes
abnormal sarcomere morphology any structural anomaly in the segment of a myofibril between two Z lines comprised of multi-protein complexes composed of three different filament systems; these systems work together to contract and relax muscle
decreased fetal size smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)
dorsal root ganglion hypoplasia underdevelopment or reduced size, usually due to a reduced cell number, of a dorsal root ganglion or ganglia
abnormal eating behavior Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption.
pulmonary alveolar proteinosis A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.
acidosis Abnormal acid accumulation or depletion of base.
failure of neuromuscular synapse postsynaptic differentiation inability of an effector cell to form a differentiated postsynaptic membrane in response to innervation at the neuromuscular synapse
abnormal ureter development any anomaly in the differentiation of the tube that conducts the urine from the renal pelvis to the bladder
abnormal vestibulocollic reflex any anomaly in the neural reflex which results from activation of afferents from the vestibular organs and uses neck movements to stabilize the head position in space
cerebral cortex pyramidal cell degeneration a retrogressive impairment or destruction of the projection neuron in the pyramidal layer of the cerebral cortex
abnormal embryonic/fetal subventricular zone morphology any structural anomaly of the transient proliferative population of neurons that expands exponentially during late prenatal development; it is a continuous germinal zone distinct from the ventricular zone that surrounds the brain ventricles
increased urine major urinary protein level increased amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine
abnormal lymph node cell ratio deviation from the standard ratios of lymph node cell subpopulations compared to control samples
inguinal hernia An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.
aorta tubular hypoplasia a diffuse narrowing of the lumen of the aorta
abnormal glutathione peroxidase activity anomaly in the ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O
corneal deposits
metacarpal bone hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges
increased response to stress-induced hyperthermia greater increase or faster than expected increase in core body termperature in response to stress or anticipatory anxiety
immotile respiratory cilia failure of the multiple epithelial tiny, motile hair-like projections of the repiratory tract epithelium to beat with a characteristic whip-like pattern in order to promote transport of fluids and other cells across the epithelium of the respiratory tract
loss of eyelid cilia inability to retain the eyelashes
increased renal glomerular filtration rate greater than the normal volume of water filtered out of the plasma through glomerular capillary walls into the Bowman's capsule per unit time
absent nasolacrimal duct absence of the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity
absent spiral limbus absence of the border of the spiral lamina, i.e. the thickened periosteum covering the upper plate of the bony spiral lamina of the cochlea
increased mean corpuscular hemoglobin greater than the average levels of hemoglobin contained in an erythrocyte
abnormal touch/ nociception change in the ability to sense contact with objects or in the ability to sense pain, most often registered by mechanoreceptors in the skin and mucous membranes
primary sex reversal gonad type is not consistent with chromosomal sex
abnormal keratinocyte proliferation anomaly in the ability of keratinocytes to undergo expansion by cell division
small parietal bone reduced size of the curved bone forming part of the vault of the cranium
small adenohypophysis reduced size of the anterior part of the pituitary that secretes a variety of hormones
abnormal folding of telencephalic vesicles malformation of the stereotypic invaginations forming the paired diverticula of the telencephalon
anoxia absence or almost complete absence of oxygen from inspired gases, in blood or tissues
thin retinal ganglion layer reduced thickness of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain
abnormal uterine environment anomaly or inability of the uterus to support embryonic development
decreased adiponectin level reduced concentration of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue
absent sacral vertebrae absence of all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae
fragmented qrs complex changes in QRS waveform pattern including different RSR' patterns, additional R waves, notched or absent Q or S wave, or more than one R wave
impaired complement classical pathway abnormal function of the plasma protein cascade triggered by antigen:antibody complexes
increased respiratory mucosa goblet cell number greater number of the cells of the respiratory epithelial lining that produce and secrete mucins
abnormal hematopoietic system morphology/development any structural or developmental anomaly of the blood cells or the organs associated with the development and formation of blood cells
absent semicircular canal ampulla absence of the spherical enlargement at the base of each semicircular canal where they connect with the utricle, containing the crista ampullaris which detects movement of the fluid within the canals
abnormal brain ventricle morphology any structural anomaly of the system of four communicating cavities within the brain that are continuous with the central canal of the spinal cord
endocrine/exocrine gland phenotype
dilated brunner's glands stretched or widened aperture of the luminal space of the branched acinotubular glands found in the submucosa of the duodenum located above the Sphincter of Oddi; their main function is to produce a mucus-rich alkaline secretion (containing bicarbonate) to protect the duodenum from the acidic content of chyme, provide an alkaline condition for the intestinal enzymes to be active (thus enabling absorption to take place), and lubricate the intestinal walls; they also secrete urogastrone, which inhibits parietal and chief cells of the stomach from secreting acid and their digestive enzymes
increased neural crest cell apoptosis increased number of (any population) of neural crest cells undergoing programmed cell death
abnormal thyroid gland morphology any structural anomaly of the endocrine gland located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin
abnormal patella morphology any structural anomaly of the large sesamoid bone that covers the anterior surface of the knee
exocrine pancreas atrophy acquired diminution of the size of the acinar gland portion of the pancreas that secretes digestive enzymes, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
abnormal maxillary nerve morphology any structural anomaly of the sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the palate, upper teeth and gingiva, the skin between the palpebral fissure and the mouth, and from the nasal cavity and maxillary sinuses
increased germinal center b cell number greater number of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen
decreased thyroid-stimulating hormone level reduced amount of the hormone that stimulates the growth and function of the thyroid gland
abnormal thymus size deviation from the normal size of the thymus
abnormal mesenchymal cell proliferation involved in lung development anomaly in the ability of the differentiating lung mesenchymal cell population to undergo expansion by cell division in the developing lung
small kidney reduced physical bulk one or both of the organs responsible for urine secretion
abnormal ovary capsule morphology any structural anomaly of the tough, fibrous capsule surrounding each ovary
abnormal endoderm development any abnormality in the formation of the innermost of the three primary germ layers of the embryo (the others being mesoderm and ectoderm) during gastrulation; endoderm gives rise to the epithelial lining of the gastrointestinal and respiratory tracts; the parenchyma of the tonsils, the liver, the thymus, the thyroid, the parathyroids, and the pancreas; the epithelial lining of the urinary bladder, urethra, and prostate; and the epithelial lining of the tympanic cavity, tympanic antrum, and auditory tube
abnormal gland morphology any structural anomaly of an organ that functions as a secretory or excretory organ
abnormal limb long bone morphology any structural anomaly of any of the several elongated bones of the extremities
abnormal circulating ldl cholesterol level any anomaly in the amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions
abnormal male accessory sex gland morphology any structural anomaly of any gland, other than the gonad, associated with the genital tract, such as the ampulla of the ductus deferens and the bulbourethral, prostate and seminal vesicles of the male
decreased circulating alkaline phosphatase level reduced concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters
disorganized outer root sheath cells disordered enveloping layer of cells of the hair follicle; surrounds inner root and is continuous with basal and spinous layers of the epidermis
absent squamosal bone absence of the thin, plate-like part of the temporal bone
abnormal maternal grooming females show an anomaly in eliciting the cleaning or tactile stimulus level necessary to initiate nursing by offspring
decreased brain weight lower than average weight of the brain
aorta dilation the luminal space of the aorta is increased in volume or area, usually with an increase of contained fluid
podocyte foot process effacement a podocyte reaction to injury or damage characterized by flattening of foot processes due to gradual simplification of the interdigitating foot process; the whole podocyte looks flat due to retraction, widening, and shortening of the processes of each podocyte while the frequency of filtration slits is reduced, giving the appearance of a continuous cytoplasmic sheet covering the glomerular basement membrane
abnormal triglyceride lipase activity anomaly in the ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion
increased cellular sensitivity to oxidative stress greater incidence of cell death or enhanced production of reactive oxygen species after exposure to a variety of stress conditions including ionizing radiation, exposure to xenobiotics, inflammation, and phagocytosis
increased kidney cell proliferation increase in the expansion rate of any kidney cell population by cell division
increased trabecular bone connectivity density increase in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures
abnormal hindlimb stylopod morphology any structural anomaly of the proximal element of the hindlimb including the femur
increased circulating interferon-beta level increase in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity
mosaic coat color a random coat color pattern due to genetically different populations of cells in the skin e.g. as the result of X-inactivation
small xiphoid process reduced size of the caudal tip of the sternum
abnormal seizure response to pharmacological agent anomaly in the seizure activity response that is brought about by treatment with pharmacological agents
abnormal pineal gland physiology any functional anomaly of the small flattened endocrine gland located in the depression between the superior colliculi of the brain
decreased double-positive t cell number less than the expected number of the subset of T cells found in the thymus that express both CD4 and CD8
increased abdominal fat pad weight greater than average weight of the encapsulated adipose tissue in the abdomen
abnormal ovarian folliculogenesis atypical formation or failure to form the spherical ovum in the ovary
increased susceptibility to infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens
spasticity A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
abnormal enteric neural crest cell proliferation any anomaly in the ability of the enteric neural crest cells to undergo rapid expansion by cell division
abnormal malleus manubrium morphology any structural anomaly in the handle of the malleus, which extends downward, inward, and backward from the neck of the malleus and is embedded throughout its length in the tympanic membrane
abnormal cochlear sensory epithelium morphology any structural anomaly of the epithelial cell layer containing the sensory hair cells and their associated sensory nerve terminals
abnormal urine uric acid level anomaly in the amount in the urine of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine
increased prolactinoma incidence greater than the expected number of a pituitary adenoma characterized by secretion of prolactin, occurring in a specific population in a given time period
decreased neural crest cell proliferation reduced ability of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult to undergo rapid expansion by cell division
abnormal somatic nervous system morphology any structural anomaly of the part of the peripheral nervous system that is responsible for conveying voluntary motor and external sensory information, including all nerves controlling the skeletal muscular system and external sensory receptors (including balance, smell, sight, taste, touch and hearing sensory inputs)
absent diaphragm absence of the thin musculomebranous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control
complete prenatal lethality death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)
small amniotic cavity reduced size of the closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds
abnormal hippocampus pyramidal cell morphology any structural anomaly of a multipolar projection neuron in the hippocampus pyramidal cell layer; pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base; the axons may have local collaterals but also project outside their cortical region
increased stomach mucosa thickness greater than the normal depth or width of the of the mucous layer of the stomach wall
abnormal lymph node size deviation from the normal lymph node size
abnormal joint mobility anomaly in the ability to move joints in a full range of motion and with ease
abnormal aerobic respiration any anomaly in the process of enzymatic release of energy from organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor
abnormal pituitary gland physiology any functional anomaly of this unpaired compound gland suspended from the base of the hypothalamus by a short extension of the infundibulum, the infundibular or pituitary stalk
increased pruritus abnormal presence or increased intensity of an uncomfortable sensation resulting from irritation of the skin or mucous membranes that evokes the desire or reflex to rub or scratch
abnormal adenoma incidence an anomaly in the expected number of a benign epithelial neoplasm with a glandular organization, occurring in a specific population in a given time period; this tumor type usually does not invade or infiltrate surrounding tissue but may remain a benign tumor or progress to malignancy
absent oculomotor nerve missing nerve of the extraocular muscles, iris and ciliary body
short cochlear hair cell stereocilia reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells
abnormal vena cava morphology any structural anomaly of either of the two largest veins in the body
abnormal circulating interleukin-3 level anomaly in the amount in the blood of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells
increased heart weight greater than average weight of the heart compared to controls
abnormal theca folliculi any structural anomaly in the envelope of condensed connective tissue surrounding a secondary ovarian follicle; the theca folliculi are divided into two layers, an internal vascular layer (tunica interna) and an external fibrous layer (tunica externa)
increased circulating interleukin-3 level increase in the amount in the blood of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells
abnormal vitamin a level any anomaly in the concentration of any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid; animals can not synthesize vitamin A de novo, but form it through oxidative cleavage of carotenoids supplied in the diet
increased klrg1-positive nk cell number increase in the number of KLRG1 positive NK cells that represent a maturation subset of NK cells and is linked to NK cell proliferation
abnormal lymphatic system physiology any functional anomaly of the interconnected system of spaces, organs and vessels between body tissues and organs through which fluid, fats, proteins, and lymphocytes are transported to the bloodstream as lymph, and microorganisms and other debris are removed from tissues
abnormal ear morphology any structural anomaly of any of the structures involved in the ear or vestibular system
abnormal b wave latency anomaly in the time from onset of stimulus to beginning of the b wave
increased susceptibility to viral infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a viral invasion or from components of or toxins produced by a virus
abnormal mitosis anomaly in the process of cell division including both division of the nucleus (karyokinesis) and the cytoplasm (cytokinesis)
abnormal primary ovarian follicle morphology any structural anomaly in the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the follicle becomes surrounded by a sheath of stroma, the theca
deafness A decreased magnitude of the sensory perception of sound.
enlarged submandibular lymph nodes increased size of the submandibular lymph nodes
abnormal hepatic portal vein morphology any structural anomaly of the wide short vein formed from the confluence of the superior mesenteric, inferior mesenteric and splenic veins, and then divides into the right and left branches which ramify with the liver; the hepatic portal vein carries venous blood from the GI tract, spleen and pancreas to the liver
gliosis The presence of gliosis in the central nervous system.
abnormal cochlear outer hair cell morphology any structural anomaly in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there are three rows of columnar outer hair cells largely surrounded by cortilymph and supporting phalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a V-shaped pattern extend from the cell's surface through the cuticular plate into the tectorial membrane
abnormal endometrial gland morphology any structural anomaly of the numerous simple or branched tubular glands lined by ciliated columnar epithelium and found in the mucus membrane of the uterus which secrete mucus, lipids, glycogen, and protein; endometrial glands and their secretions (termed histotroph) are critical regulators of peri-implantation embryo survival and implantation as well as establishment of uterine receptivity
abnormal synaptonemal complex an anomaly in the formation of the proteinaceous structure involved in the pairing of homologous chromosomes during first prophase of meiosis
abnormal kidney arterial blood vessel morphology any structural anomaly of the network of tubes that supply blood to the renal tissues
abnormal anterior primitive streak morphology any structural anomaly of the anterior region of the vertebrate primitive streak which gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node
abnormal proximal convoluted tubule brush border morphology any structural anomaly of the densely packed microvilli that cover the luminal surface of epithelial cells of the proximal convoluted tubule; microvilli increase the luminal surface area of cells, sense the fluid flow in the tubule lumen and convert this information via biochemical responses into reabsorption
abnormal inner ear development atypical initial production, differentiation, migration or maturation of the labyrinth, including the semicircular canals, vestibule and cochlea
increased pancreas weight increase in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream
increased body weight
abnormal t wave any anomaly in the T wave which is normally caused by the repolarization (or recovery) of the ventricles
abnormal cochlear microphonics any anomaly in the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound; the cochlear microphonic (CM) is an electric response dominated by OHC receptor potentials from the basal turn of the cochlea and provides a measure of transducer function in OHCs; in an active ear, CM waveforms show post-stimulus ringing (i.e. a cochlear echo) whereas in a passive ear system, CM decays at the cessation of the tone burst
decreased incidence of tumors by uv induction lower than normal frequency of tumor incidence induced by exposure to ultraviolet light
abnormal keratinocyte differentiation developmental anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum
absence of nmda-mediated synaptic currents absence of a measured amplitude, current density or duration of response to stimulation of NMDA receptors
absent cardiogenic plate absence of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; normally, angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube
adipose tissue phenotype the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan
decreased abdominal fat pad weight less than average weight of the encapsulated adipose tissue in the abdomen
abnormal cochlear hair cell morphology any structural anomaly of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve
decreased sensitivity to induced morbidity/mortality increase in the amount of an external agent required to cause death or diseased state
abnormal patterning of the organ of corti anomaly in the organization of the various cell types within the organ of Corti into a set number of distinct rows
increased diameter of fibula
absent spongiotrophoblast absence of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors
total cataracts a lens opacity which involves both nuclear and cortical regions, including all fibers of a lens; usually congenital
long tibia increased length of the medial and larger of the two bones of the lower leg
abnormal pharyngeal arch artery morphology any structural anomaly of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels
ischuria
hemopericardium A pericardial effusion that results from blood in the pericardial sac.
increased body mass index greater than normal average of a measure of weight for height
abnormal olfactory bulb morphology any structural anomaly of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex
decreased cardiac muscle contractility inability or reduced ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume
abnormal deiters cell morphology any structural anomaly in the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities
abnormal stomach smooth muscle circular layer morphology any structural anomaly of the middle layer of the muscularis; it is continuous with the circular layer of the esophagus, but is absent in the fundus and lies concentric to the longitudinal axis of the stomach; the circular layer is normally tonically constricted forming a functional pyloric sphincter, which controls the movement of chyme into the duodenum
decreased cerebral cortex pyramidal cell number reduced number of the projection neurons in the pyramidal cell layer of the cerebral cortex
small prostate gland reduced size of the gland in males that secretes part of the seminiferous fluid
patent foramen ovale
abnormal retinal apoptosis increase or decrease in the number of cells in the retina undergoing programmed cell death
increased osteoid volume increase in the amount of space occupied by newly formed organic bone matrix secreted by osteoblasts
absent schlemm's canal absence of the vascular structure encircling the anterior chamber of the eye, through which the aqueous humor is returned to the blood circulation
abnormal sixth pharyngeal arch morphology any structural anomaly of the sixth arch which contributes to the development of the sternocleidomastoid and trapezius muscles
maternal imprinting the establishment of heritable alterations in the activity of a gene that depend on whether it passed through the maternal germline, but that are not encoded by DNA itself
vesicovaginal fistula The presence of a fistula connecting the urinary bladder to the vagina.
abnormal enterocyte cell number deviation from the normal numbers of enterocytes
failure of secondary bone resorption inability to degrade the organic and inorganic phases of bone by absorption, usually by the abnormal function or by absence of osteoclasts
abnormal stomach mucosa morphology any structural anomaly of the mucous layer of the stomach wall which contains the gastric pits and glands, and consists of epithelium, lamina propria, and the muscularis mucosae
increased plasmacytoid dendritic cell number greater number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli
split sternum
abnormal hair texture irregular or unusual appearance of the structure of the hair
abnormal ampullary gland morphology any structural anomaly of the paired accessory, glandular, androgen-dependent outpouchings of the proximal ductus deferens, one on each side, that produce and secrete lipids and glycogen, components of the seminal fluid; they open into the ampullae at the level of the colliculus seminalis, are lined by simple columnar epithelium with large, oval nuclei, and may be distinguished from those of the prostate as they are surrounded by a characteristic, dense, fibromuscular stroma; the epithelium forms longitudinal folds and the glands contain homogeneous, dense, eosinophilic secretions with characteristic holes that impart a Swiss cheese-like appearance
domed cranium increased curvature to the hemispherical shape of the upper cranial case
abnormal erg implicit time anomaly in the time from the onset of light stimulus to the peak of a waveform feature
increased defecation amount increase in the amount of discharge of feces from the body
dextrocardia
axial skeleton hypoplasia underdevelopment or reduced size in the skeletal elements of the trunk, usually due to reduced cell number
cystic bulbourethral gland presence of membrane-lined sacs containing gas, fluid, or semisolid matter in the gland in males that lies along the prostate gland and secretes a fluid component of the seminal fluid into the urethra
decreased susceptibility to prion infection reduced likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is a major and necessary component
increased spleen white pulp amount increase in the quantity of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies
situs ambiguus A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
decreased embryonic cilium number reduced number of the cilia of the mouse embryo found on the cells of the embryonic node
decreased circulating growth hormone level less than the expected blood concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization
abnormal lens fiber morphology any structural anomaly of the elongated cells of the crystalline lens of the eye
submandibular gland hypoplasia underdevelopment or reduced size of either of the large major salivary glands situated beneath the mandible, usually due to reduced cell number
absent enteric neurons absence of the neurons that innervate the esophagus, stomach, small and large bowel
bicuspid aortic valve The presence of an aortic valve with two instead of the normal three cusps (flaps).
agonadal denoting the absence of gonads
increased lung adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the lung, occurring in a specific population in a given time period
decreased cochlear outer hair cell electromotility reduced motility of the cochlear OHCs in response to electrical stimulation
hyperalgesia increased sensitivity to painful stimuli; can be due to inflammatory response or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area)
thin retinal inner nuclear layer reduced thickness of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells
abnormal yolk sac hematopoietic stem cell morphology any structural anomaly of a hematopoietic stem found in the yolk sac
toenail hyperkeratosis keratin extensions from the toenails
abnormal cholesterol level anomaly in the amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues
decreased spleen germinal center number reduced number of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs
increased cornea thickness increased width of the cornea in the center plane
decreased interleukin-3 secretion reduction in the production or release of a multilineage cell growth factor secreted by lymphocytes, epithelial cells and astrocytes which stimulates clonal proliferation and differentiation of various types of blood and tissue cells
absent optic disc absence of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve
abnormal passive avoidance behavior anomaly in the ability of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously with prolonged latency
increased white fat cell lipid droplet size increase in the size of the single large lipid droplet or vacuole of white fat cells
abnormal t cell receptor v(d)j recombination any anomaly in the process by which T cell receptor V, D, and J, or V and J gene segments, depending on the specific locus, are recombined within a single locus
abnormal esophagus morphology any structural anomaly of the part of the digestive canal through which food passes from the pharynx to the stomach
failure of sternum ossification failure to initiate or a block in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone
absent anterior visceral endoderm absence of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue
increased rib number greater than normal numbers of the pairs of bony structures that are elements of the body wall
abnormal purine-nucleoside phosphorylase activity anomaly in the ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate
abnormal germ cell morphology Any structural anomaly of a reproductive cell.
abnormal wet-to-dry lung weight ratio any deviation from the standard ratio, calculated by dividing the wet lung weight (measured immediately after lung excision) to the oven-dried lung weight, compared to control samples; may be used as an index of extravascular fluid accumulation (pulmonary edema) and/or tissue damage after lung injury
oligozoospermia disease cluster belonging to disease group reproduction
abnormal b-1a b cell morphology any structural anomaly of the B-1 B cell subset bearing the CD5 surface marker
absent occipital bone absence of the bone at the lower, posterior part of the skull
abnormal systemic arterial blood pressure altered tension of the blood within the systemic arteries
increased mammary adenocarcinoma incidence
adhesive atelectasis alveolar collapse in the presence of patent airways, especially when surfactant is inactivated or absent, and is seen in newborn respiratory distress syndrome, acute radiation pneumonitis, or viral pneumonia
decreased b cell proliferation absent or reduced expansion rate of the B cell population by cell division in response to stimuli
decreased neuronal precursor cell number reduced number of the neuroblast embryonic cells that develop into nerve cells or neurons
female infertility
abnormal duodenum morphology any structural anomaly of the first division of the small intestine that extends from the pyloris to the junction with the jejunum
abnormal vascular endothelial cell physiology anomaly in the function of the cells that line the vasculature
dorsal root ganglion degeneration retrogressive pathological change of a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column
abnormal neurotransmitter level anomaly in the amount of endogenous signaling molecules into a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell
small frontal bone reduced size of the bone forming the forehead and roof of the eye orbit
abnormal bone marrow cell physiology any functional anomaly of any of the cells found in the bone marrow
decreased renal fat pad weight less than average weight of the encapsulated adipose tissue associated with the kidney
large penis enlarged size of the organ of copulation and urination in the male
increased lung carcinoma incidence
abnormal corticotroph morphology any structural anomaly of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH)
abnormal enteric neuron morphology any structural anomaly of the neurons that innervate the esophagus, stomach, small and large bowel
hypoventilation A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).
increased pancreatic islet cell carcinoma incidence greater than the expected number of malignant neoplasms arising in the pancreatic islet cells, occurring in a specific population in a given time period
abnormal small intestinal crypt cell physiology any functional anomaly of the cells that make up the tubular intestinal glands found in the mucosal membranes of the small intestine
abnormal otoacoustic response anomaly in the acoustic energy produced by the cochlea in the presence or absence of sound stimulation
decreased susceptibility to weight gain smaller increase in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake
absent regulatory t cells absence of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity
decreased glutathione peroxidase activity reduced ability to catalyze the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O
abnormal quadriceps morphology any structural anomaly of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint
decreased platelet adp level reduced concentration of the major energy source adenosine diphosphate produced by dense bodies located in platelets
absent endometrium absence of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy
increased skin squamous cell carcinoma incidence
vascular smooth muscle hypotrophy decrease in size or thickness of the smooth muscle of the vascular wall
increased liver copper level a greater accumulation of copper in the liver tissue compared to controls
lymphangiectasis
abnormal inguinal fat pad morphology any structural anomaly of the encapsulated adipose tissue found in the groin
abnormal metatarsal bone morphology any structural anomaly in the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges
abnormal ectoplacental cone morphology any structural anomaly of the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta
kinked tail a sharp bend or zigzag in the tail
thin cochlear hair cell stereocilia reduced thickness of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells
increased effector memory cd4-positive, alpha-beta t cell number increased number of CD4-positive, alpha-beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative
abnormal adrenal gland secretion altered ability of the surparenal gland to produce or secrete hormones
myocardial trabeculae hypoplasia underdevelopment or reduced size of the supporting bundles of muscular fibers lining the walls of the heart, usually due to a reduced number of cells
increased urination frequency
increased sertoli cell phagocytosis enhanced phagocytic activity of testicular Sertoli cells
abnormal extraglomerular mesangial cell morphology any structural anomaly of the light-staining cells in the kidney found outside the glomerulus, near the vascular pole and macula densa; lacis cells form the juxtaglomerular apparatus in combination with two other types of cells: the macula densa of the distal convoluted tubule and juxtaglomerular cells of the afferent arteriole
abnormal optokinetic reflex any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement; normally, this reflex functions to stabilize a moving image on the retina
abnormal gabaergic neuron morphology any structural anomaly of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter
dilated rete testis an expansion in the volume or area of the network of canals located at the termination of the straight tubules in the mediastinum testis, usually with an increase in contained fluid
abnormal spleen periarteriolar lymphoid sheath morphology any structural anomaly of the area of the spleen in which T cells surround the central arteriole
abnormal left subclavian artery morphology any structural anomaly of the artery that extends from the aortic arch to the left side of the body
abnormal vestibular saccule morphology any structural anomaly of the smaller of the two sacs in the vestibule
increased pheochromocytoma incidence greater than the expected number of a benign neoplasm derived from adrenal medullary cells, occurring in a specific population in a given time period; usually associated with hypertension
abnormal somatostatin level anomaly of the blood or tissue concentration of a tetradecapeptide capable of inhibiting the release of somatotrophin by the anterior lobe of the pituitary gland and the release of insulin and gastrin from digestive system tissues
common truncal valve a single outflow tract valve that opens into the truncus arteriosus that is frequently present in cases of truncus arteriosus septation defects
mitral valve prolapse A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.
increased sebaceous gland tumor incidence greater than the expected number of neoplams in the sebaceous gland occurring in a specific population in a given time period
abnormal gastrocnemius morphology any structural anomaly of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles
abnormal retinal vasculature morphology any anomaly of the structure or arrangement of blood vessels supplying the retina
lethargy A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
abnormal proximal-distal axis patterning anomaly in the formation or development of a body structure, often a limb, in relation to the structure's proximity to the trunk or point of origin
abnormal renal tubule morphology any structural anomaly of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule
abnormal paranodal axoglial junction morphology any structural anomaly of the structure in which the myelin sheath attaches to the axon at each end of each myelin segment; the axoglial junctions act as a diffusion barrier between the node and internode, maintaining domain-specific axolemmal membrane components
abnormal macrophage physiology any functional anomaly of the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells
increased malignant tumor incidence higher than normal incidence of locally invasive, destructive and metastatic tumors
abnormal nest building behavior deviation from the usual behavior of nesting animals to build sleeping nests out of any available materials, or of nesting animals to build nests to protect offspring
decreased leukocyte cell number
submission towards male mice no domineering, assault posture nor hostile physical action toward male mice
variable depigmentation
abnormal retina outer limiting membrane morphology any structural anomaly of the row of junctional complexes between the plasma membranes of rod segments and the Muller glia cells; this barrier separates the layer of inner and outer segments of the rods and cones from the outer nuclear layer and forms a blood-retina barrier
increased prostate gland tumor incidence greater than the expected number of neoplams in the prostate gland occurring in a specific population in a given time period
abnormal heart position or orientation the heart is displaced from the normal left-sided position and/or orientation
abnormal intercostal muscle morphology any structural anomaly of the respiratory muscles that arise from the lower border of one rib and insert into the upper border of the adjoining rib
vas deferens hypoplasia underdevelopment or reduced size of the vas deferens, usually due to a reduced number of cells
cerebellum hypoplasia
abnormal sensitization anomaly in the process in which a progressive amplification of a behavioral response follows repeated administration of a stimulus
abnormal kidney cortex morphology any structural anomaly of the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration; it contains the renal corpuscles, the renal tubules (except for parts of the loop of Henle which descend into the renal medulla), blood vessels and cortical collecting ducts
impaired cardiac neural crest cell differentiation abnormal or arrest of differentiation or patterning of the cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs have the potential to differentiate into smooth muscle cells of the cardiac outflow tract and its septum, walls of aortic and arch-derived arteries, all of the parasympathetic innervation of the heart, and the connective tissue of the glands in the head and neck region, including the thymus, thyroid and parathyroid glands
waved hair
abnormal cervical lymph node morphology any structural anomaly of the lymph nodes found near the neck and shoulders
hippocampal neuron degeneration a retrogressive impairment of function or destruction of the neuronal cells in the hippocampus
small nodose ganglion reduced size of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve)
short maxilla reduced length of the upper jaw bone
delayed optic fissure closure late onset of the initiation and/or completion of closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its rim and posteriorly along the optic stalk
abnormal body wall morphology any structural anomaly of the external portion of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity
abnormal contextual conditioning behavior anomaly in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)
small pupils smaller than normal size of the central circular aperture of the iris through which light rays enter the eye
degeneration of organ of corti supporting cells degeneration or loss of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti
abnormal circulating triglyceride level abnormal concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver
behavior/neurological phenotype the observable actions or reactions of mammalian organisms that are manifested through development and lifespan
decreased heart right ventricle size less than average size of the right ventricle compared to the average for a particular population
increased susceptibility to type iv hypersensitivity reaction greater likelihood of developing an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact
increased renal cystadenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization and a cyst-like appearance arising in the kidney, occurring in a specific population in a given time period
altered metastatic potential altered likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it
increased circulating parathyroid hormone level greater blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body
abnormal trophectoderm cell proliferation
abnormal azygos vein morphology any structural anomaly of the unpaired vein which in humans arises from the right ascending lumbar vein or the vena cava, enters the thorax through the aortic orifice in the diaphragm, and terminates in the superior vena cava; unlike humans, mice have a single and left-sided azygos vein that develops from the paired embryonic cardinal venous system and drains most of the right and left thoracic walls into the left anterior vena cava
abnormal male inguinal canal morphology any structural anomaly of the passage in the lower abdominal wall through which the spermatic cord, nerves and vessels pass from the pelvic cavity to the scrotum
abnormal skin morphology any structural anomaly of the membranous protective covering of the body
foam cell reticulosis an increase in cells with a vacuolated appearance due to abnormal deposition and retention of lipoproteins and derived from or related to the group of cells having the ability to take up and sequester inert particles and vital dyes, including macrophages and macrophage precursors, specialized endothelial cells lining the sinusoids of the liver, spleen, and bone marrow, and macrophages of lymphatic tissue and fibroblasts of bone marrow
abnormal erythroblast number altered number of the nucleated precursor of erythrocytes
bronchiolar epithelial hyperplasia increased size, often due to increased epithelial cell number, of the epithelial layer of the bronchioles
absent vestibular nerve absence of the part of the vestibulocochlear nerve [CN VIII] that is peripheral to the vestibular root
absent right subclavian artery absence of one of the two subclavian arteries; the right subclavian artery normally extends from the brachiocephalic artery to the right side of the body
abnormal cochlear inner hair cell morphology any structural anomaly in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there is a single row of flask-shaped inner hair cells tightly surrounded by supporting interphalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a more or less linear (or shallow) U-shaped pattern extend from the cell's surface through the cuticular plate into the endolymphic space inferior to the tectorial membrane
abnormal pulmonary elastic fiber morphology any structural anomaly of a slender connective tissue fiber in pulmonary tissue characterized by great elasticity
abnormal prechordal mesoderm morphology any structural anomaly of the area of axial mesoderm that develops into the prechordal plate
high mean erythrocyte cell number greater than average numbers of red blood cells
absent ectoderm absence of the outer of the three primary germ layers of the embryo (the others being mesoderm and endoderm) that originates in the epiblast and is formed during gastrulation
abnormal neural fold formation any anomaly in the process by which the edges of the neural plate thicken and move up to form a U-shaped structure called the neural groove
abnormal interventricular septum morphology any structural anomaly of the wall between the two lower chambers of the heart; the ventricular septum consists of a very small membranous portion just beneath the aortic valve, and a large thick muscular portion consisting of three sections including the inlet septum, the trabecular septum, and the outlet septum
decreased susceptibility to autoimmune diabetes reduced likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas
decreased cranial neural crest cell number reduction in the number of neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordial; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage
thick pulmonary valve an increase in the ratio of the pulmonary valve wall thickness to the pulmonary artery wall thickness
abnormal brain ependyma motile cilium physiology any functional anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid
detached tectorial membrane tectorial membrane is abnormally detached from the cochlear epithelium or spiral limbus
abnormal cd8-positive, alpha-beta memory t cell morphology any structural anomaly of a CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high
decreased cochlear inner hair cell number decreased number (or less than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti
abnormal anterior corticospinal tract morphology any structural anomaly of the small bundle of corticospinal motor fibers that do not cross the midline at the pyramidal decussation and descend into the anterior funiculus of the spinal cord; the anterior corticospinal tract controls central axial and girdle muscles
epididymal inflammation local accumulation of fluid, plasma proteins, and leukocytes in the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens
exocrine pancreatic insufficiency
enhanced cued conditioning behavior increase in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash)
decreased bone mineral content reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area
pulmonary valve atresia A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.
increased plasmacytoma incidence greater than the expected number of neoplastic plasma cells in bone or in one of the extramedullary sites occurring in a specific population in a given time period
enlarged pulmonary valve an increase in the total area occupied by the pulmonary valve
abnormal thoracic cavity morphology any structural anomaly of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway
increased blood urea nitrogen level high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function
abnormal coat/ hair morphology any anomaly in the color, structure, growth, or texture of the hair
brachyphalangia
increased circulating vldl triglyceride level higher than average concentration in the blood of very low density lipoprotein, which normally transports triglycerides from the intestine and liver to muscle and adipose tissue
abnormal placental transport anomaly in the conveyance of metabolic products and nutrients across the placenta
abnormal lens capsule morphology any structural anomaly of the elastic, clear, membrane-like structure, that is outer most layer of the lens
decreased mortality induced by ionizing radiation reduced sensitivity to lethal doses of ionizing radiation such as ultraviolet light, X-rays, or gamma rays
abnormal ammon gyrus morphology any structural anomaly of one or both of the two interlocking gyri of the hippocampus formation; a circonvolution of rhinencephalon, the grey substance of which is rich in big pyramidal neuronal cells
abnormal hippocampus granule cell morphology any structural anomaly of the small neurons of the hippocampal granule cell layer
premature intramembranous bone ossification early onset of bone formation in bones that form without a cartilaginous intermediate including the cranium and clavicle
abnormal clitoris size anomaly in the size of the small cylindrical erectile body located at the most anterior portion of the vulva
abnormal sperm head morphology any structural anomaly of the head segment of the sperm cell which contains the nucleus with densely coiled chromatin fibers, and is surrounded anteriorly by the acrosome which contains enzymes used for penetrating the female egg
absent strial basal cell tight junctions absence of tight junctions from the basal cell layer of stria vascularis, resulting in destruction of the paracellular barrier between basal cells; loss of basal cell tight junctions renders the intrastrial space open to perilymph and abolishes its electrical isolation
sinus venosus hypoplasia underdevelopment or reduced size of the cavity at the caudal end of the embryonic cardiac tube in which the veins from the intra- and extraembryonic circulatory arcs unite, usually due to a reduced number of cells
abnormal direction of embryo turning axial rotation of the embryo in a direction other than the normal anticlockwise direction when viewed towards the caudal pole during the late primitive streak/early somite stage; clockwise rotation is frequently associated with heart and visceral defects
decreased keratinocyte migration reduced or slower movement of keratinocyes or their precursors to the appropriate location in the body
absent proprioceptive neurons absence of the sensory neurons of the dorsal root ganglia that sense body position and send information about how much the muscle is stretched to the spinal cord
increased left ventricle weight greater than average weight of the left ventricle compared to the average
impaired neutrophil phagocytosis reduced ability of neutrophils to internalize particulate matter
abnormal motor capabilities/coordination/movement altered ability to coordinate voluntary movement or repetitive, compulsive movements
enhanced cellular glucose import improved ability of a cell to take in glucose from the environment
abnormal cardiovascular system physiology any functional anomaly of the heart or vascular tissue
decreased neuron apoptosis decrease in the number of neurons undergoing programmed cell death
increased oxygen consumption greater than the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body
decreased spleen red pulp amount reduction in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation
abnormal b cell receptor editing any anomaly in the process of replacing receptors on B cells, in which RAG gene expression allows continued light-chain gene rearrangement and expression of a new light change which combines with the previous heavy chain to form a new receptor
absent floor plate absence of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube
kidney medulla hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the inner portion of the kidney consisting of the renal pyramids
limbs/digits/tail phenotype
decreased susceptibility to autoimmune disorder reduced likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides
increased leiomyosarcoma incidence greater than the expected number of a malignant tumor derived from smooth (nonstriated) muscle, occurring in a specific population in a given time period
increased incidence of corneal inflammation greater than average occurrence and/or persistence of the local accumulation of fluid, plasma proteins, and leukocytes in the cornea
increased hemoglobin content increase in the total hemoglobin content in the circulating blood
abnormal meiotic configurations uncharacteristic chromosome arrangement produced by anomalous chromosome pairing and chiasma formation from prophase to metaphase of meiosis I due to abnormal chromosome structure and necessary to produce functional gametes
abnormal small intestinal microvillus morphology any structural anomaly of the additional extensions of the villi of the small intestine which protrude from the apical surface of the epithelial cells lining the villi; the microvilli increase the absorptive surface area of the small intestine by approximately 600-fold
abnormal eyelid development aberrant formation of the skin folds covering the front of the eyeball
abnormal choroid vasculature morphology any structural anomaly of the blood vessels of the choroid
abnormal compact bone volume any anomaly in the amount of space occupied by compact bone tissue in the skeleton
abnormal anterior definitive endoderm morphology any structural anomaly of the mesendoderm which first migrates from the node and evolves into the foregut, from which pancreas, liver and lungs will eventually emerge
increased erythrocyte protoporphyrin level an accumulation of the intermediates of heme biosynthesis in red blood cells
abnormal olfactory neuron innervation pattern any changes in the placement, morphology or number of axons from olfactory neurons to an effector tissue or to olfactory glomeruli or olfactory bulb
short kidney papilla reduced average length of the apex of the renal pyramid that projects into a calyx
increased circulating interleukin-18 level increase in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity
decreased sensitivity to skin irradiation decreased incidence of aberrant or damaged cells due to irradiation induced genotoxic damage
abnormal lymph organ size change in the normal size of lymphatic tissues
dehydration
abnormal b cell activation any anomaly in the normal change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific
abnormal lysosome morphology any structural anomaly of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases
abnormal bulbar conjunctiva morphology any structural anomaly of the conjunctiva covering the anterior surface of the sclera and the surface epithelium of the cornea
small placenta Reduced size of the placenta.
increased cellular sensitivity to hydroxyurea greater incidence of cell death following exposure to hydroxyurea
abnormal pulmonary gas exchange anomaly in the exchange of oxygen and carbon dioxide between the alveolar air and pulmonary capillary blood
pale lung lung lacking normal reddish coloration; often occurs with a bloodless or reduced vasculature condition
abnormal sclera morphology any structural anomaly of the fibrous, outer envelope of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea
premature bone ossification early onset of the formation of bone
abnormal lung weight anomaly in the average weight of the lung
decreased lung compliance reduced ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure
increased caudal vertebrae number increased number of the bony segments of the coccyx or tail
delayed ear emergence late onset of the growth of the outer ear
pseudohermaphroditism
abnormal enterocyte morphology any structural anomaly of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen
abnormal uvea morphology any structural anomaly of the pigmented vascular coat of the eyeball, consisting of the iris, ciliary body, and choroid
abnormal iridocorneal angle any structural anomaly of the acute angle occurring between the iris and the cornea at the periphery of the anterior chamber of the eye
abnormal pancreas development anomaly in the formation of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream
increased heart right ventricle size greater than average size of the right ventricle
abnormal gustatory system morphology any structural anomaly of the organs involved in taste
pubis hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis
abnormal thyrotroph morphology any structural anomaly of an anterior pituitary cell that produces thyroid-stimulating hormone
ectopic purkinje cell Purkinje cell body resides in places other than the Purkinje cell layer in the cerebellum
abnormal renal/urinary system morphology any structural anomaly of any of the organs or tissues responsible for fluid volume regulation, regulating electrolytes, maintaining acid-base homeostasis, and elimination of water and water soluble waste products in an organism
decreased plasmacytoid dendritic cell number reduced number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli
abnormal scrotum morphology any structural anomaly of the external sac of skin that encloses the testes
abnormal pharyngeal arch morphology any structural anomaly of the transient structures of the embryo that develop into regions of the head, neck and ears
abnormal urine osmolality changes in the amount of ions in the urine compared to the normal state
increased circulating leptin level greater than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance
abnormal boettcher cell morphology any structural anomaly of the polyhedral cells located on the basilar membrane beneath the Claudius cells in the basal turn of the cochlea, and considered supporting cells for the organ of Corti; Boettcher cells interweave with each other, project microvilli into the intercellular space, show high levels of calmodulin, and may be involved in mediating Ca(2+) regulation and ion transport
focal dorsal hair loss focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs
enlarged gallbladder increased size of the gall bladder, the organ that serves as a storage reservoir for bile
increased surfactant secretion greater production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli
abnormal ventral striatum morphology any structural anomaly of the regions of the nucleus accumbens and some nuclei of the olfactory tubercle that lie ventral to the anterior commissure
increased transitional stage t3 b cell number greater number of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive
abnormal stratification in cerebral cortex abnormal formation or pattern of the layers of the cerebral cortex
abnormal apolipoprotein level anomaly in the amount of the a protein that is frequently a component of a lipoprotein complex
retina coloboma
calcinosis A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.
abnormal basophil cell number deviation of the count of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size
abnormal cholesterol homeostasis
double outlet right ventricle, ventricular defect committed to aorta a form of DORV in which a ventricular septal defect is located just below the aorta; the left ventricular outflow is directed toward the aorta, resulting in aortic oxygen saturations that exceed pulmonary saturations; pulmonary stenosis is also often present
abnormal umbilical artery morphology any structural anomaly of the paired arteries that bring unoxygenated blood back to the placenta from the dorsal aorta through the umbilical cord
abnormal alveolar process morphology any structural anomaly of the thickened ridge of bone in the mandible and maxilla that holds the tooth sockets
abnormal frontonasal mesenchyme morphology any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the frontonasal region of the head
decreased germinal center b cell number reduced number of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen
decreased erythrocyte cell number reduced number of the cells that transport oxygen, red blood cells, per unit
abnormal drinking behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.
titubation Nodding movement of the head or body.
enlarged axillary lymph nodes increased size of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region
increased anti-erythrocyte antigen antibody level elevated level of antibodies to erythrocyte antigen present in the sera
prostate gland cysts benign epithelial growths, often fluid-filled, within the gland in males that secretes part of the seminiferous fluid
saccharin preference subjects demonstrate predilection for saccharine over other offered substance
small rosenthal canal reduced size of the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea
increased t cell number greater than normal T cell numbers
ocular hypotelorism Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
abnormal ascending aorta and coronary artery attachment any anomaly of the connection site of any or all of the coronary arteries to the ascending aorta
fused inner hair cell stereocilia coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner hair cells, often resulting in giant stereocilia
abnormal circulating interleukin-13 level anomaly in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses
seminal vesiculitis
increased carbon dioxide production increase in the rate at which carbon dioxide leaves the blood and enters the alveolar gas
decreased forebrain volume decrease from the average range of forebrain volume compared to normal
abnormal axon guidance defect in the signaling mechanisms that allow precise navigation and connections of axonal growth cones to effector tissues
ectopic cerebellar granule cells granule cell body resides in a place other than the external or internal granule layer of the cerebellum
abnormal digestive organ placement different location or arrangement of any of the alimentary tract organs
decreased tumor necrosis factor secretion reduction in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium
increased thyroid tumor incidence greater than the expected number of neoplams in the thyroid occurring in a specific population in a given time period
spina bifida
absence seizures Recurrent absence seizures are generalized seizures and are characterized by a loss of consciousness, thus, are a form of dialeptic seizures.
decreased susceptibility to induced colitis decreased severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS)
abnormal circadian feeding behavior anomaly in the fluctuation pattern in feeding behavior (amount and instances) that occurs over an approximately 24 hour light/dark cycle
abnormal physical strength altered ability of an organism to exert force on physical objects or of the body to support its load
absent sperm annulus absence of the ring-like, filamentous structure located at the midpiece-principal piece junction of the sperm flagellum, usually associated with a bent tail morphology
abnormal cocaine consumption aberrant behavioral-related or physiological-related intake of cocaine into the body
absent deltoid tuberosity missing the rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches
abnormal microglial cell physiology any functional anomaly of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system; microglia are scavengers, engulfing dead cells and other debris, and in Alzheimer's disease, microglia are found associated with dying nerve cells and amyloid plaques
decreased cholesterol level less than normal amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues
ectopic kidney A developmental defect in which a kidney is located in an abnormal anatomic position.
absent red nucleus absence of the pale pink structure located in the tegmentum of the midbrain next to the substantia nigra and involved in motor coordination
abnormal mandibular condyloid process morphology any structural anomaly of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint
decreased outer hair cell stereocilia number decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear outer hair cells
absent type ii pneumocytes absence of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored
abnormal kidney development any anomaly in the differentiation of the paired organs responsible for urine secretion
abnormal xiphoid process morphology any structural anomaly of the caudal tip of the sternum
decreased spleen weight reduction in the average weight of the organ that functions to filter blood and to store red corpuscles and platelets
small allantois reduced size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels
increased testis tumor incidence greater than the expected number of abnormal rapidly proliferating cells in the testis, usually in the form of a distinct mass, occurring in a specific population in a given time period
increased susceptibility to experimental autoimmune encephalomyelitis greater likelihood that an organism will develop disease symptoms similar to human multiple sclerosis upon induction with antigens to Myelin Basic Protein (MBP), Proteolipid Protein (PLP), and/or Myelin Oligodendrocyte glycoprotein (MOG)
abnormal spinal cord interneuron morphology any structural anomaly of neurons that exclusively interact with other neurons in the spinal cord
ventricular cardiomyopathy diseases of the ventricles of the heart
abnormal neural crest cell migration any anomaly in the dispersion of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult
absent t cells absence of the lymphocytes that are responsible for cell-mediated immunity and immune system regulation
increased pituitary adenoma incidence greater than the expected number of benign neoplasms of the pituitary, occurring in a specific population in a given time period
abnormal platelet aggregation An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.
abnormal osteoclast morphology any structural anomaly of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue
immune system phenotype
abnormal long bone epiphyseal ossification zone morphology any structural anomaly of the layer of the epiphyseal plate where new bone matrix is deposited
decreased susceptibility to hyperlipidemia less likely than normal to develop abnormally high levels of circulating lipids
spleen atrophy acquired diminution of the size of the spleen associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
abnormal telomere length abnormal length of the terminal repetitive DNA section of a chromosome which is involved in chromosomal replication and senescence, and which protects the end of the chromosome from deterioration; normal length is a few hundred base pairs
abnormal vestibular labyrinth morphology any structural anomaly in the portion of the membranous labyrinth concerned with the sense of equilibration (vs. the cochlear labyrinth, which is concerned with the sense of hearing) and innervated by the vestibular nerve; it is located within the semicircular canals and vestibule of the bony labyrinth, and consists of the utricle, saccule, and the semicircular, utriculosaccular, and endolymphatic ducts
abnormal myeloblast morphology/development any structural anomaly of the cells found in the bone marrow that give rise to the granulocyte line of blood cells
absent interparietal bone absence of the bone of the cranium that lies above and anterior to the occipital bone in some mammals
ectopic ureteric bud ureteric bud(s) are not located in the normal or expected position
dilated basilar artery stretched or widened aperture of the luminal space of the unpaired artery that is formed by the union of the two vertebral arteries, runs forward within the skull just under the pons, divides into the two posterior cerebral arteries, and supplies the pons, cerebellum, posterior part of the cerebrum, and the inner ear
impaired fertilization defect or reduced ability in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei
spina bifida occulta The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
absent hyoid bone absence of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles
increased aggression towards males when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward male mice
abnormal purkinje cell migration any anomaly in the movement of immature Purkinje cells from the ventricular zone of the fourth ventricle along radial glial cells to the forming Purkinje cell layer during development of the cerebellar cortex
hypokalemia
small malleus manubrium reduced size of the handle of the malleus
abnormal bronchus morphology any structural anomaly of the upper conducting airways of the lung; these airways arise from the terminus of the trachea
right-sided isomerism anomaly in the asymmetry of the visceral paired organs (e.g. lungs) such that organs on the left and right side have the morphology normally seen on the right side of the body; this may also be associated with absence of the spleen
abnormal oculomotor nerve morphology any structural anomaly of the third cranial nerve, which normally sends motor fibers to the levator muscles of the eyelid and to the superior rectus, inferior rectus, and inferior oblique muscles of the eye; and also sends parasympathetic efferents to the muscles controlling pupillary constriction and accommodation
increased glycogen level greater than the normal concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle
tongue ankylosis
abnormal primordial germ cell morphology any structural anomaly of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge
abnormal long term potentiation alterations in a persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells
abnormal guard hair morphology any structural anomaly of the long, straight truncal hairs that contain two air cells in the medulla
skeletal muscle interstitial fibrosis formation of fibrous tissue within the interstices of skeletal muscle as a result of repair or a reactive process
dark foot pads darker color of the foot pads due to excess pigment
ectopic manchette abnormal position of the conic array of microtubules that normally invests the posterior nucleus of a spermatid
enlarged brain ventricles increased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord
dry eyes
abnormal microglial cell morphology any structural anomaly of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system; microglia are scavengers, engulfing dead cells and other debris, and in Alzheimer's disease, microglia are found associated with dying nerve cells and amyloid plaques
elongated metacarpal bones increased length of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges
abnormal blood cell morphology/development any structural anomaly of any of the cells found in the blood or hematopoietic organ
retinal ganglion cell degeneration degeneration or loss of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain
poor circulation insufficient movement of blood throughout the body, often manifesting in cold and/or pale skin
abnormal regulatory t cell morphology any structural anomaly of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity; these may include T cells that express the CD8 transmembrane glycoprotein (CD8-positive T cells), those that express CD4 and CD25 (CD4-positive, CD25-positive regulatory T cells or Tregs) and other T cell types that have suppressor function
thin hair follicle outer rooth sheath reduced thickness of the hair follicle that merges proximally with the basal layer of the interfollicular epidermis and distally with the hair bulb
increased body size larger than average body weight, height and/or length of an organism compared to controls
increased adrenal cortical tumor incidence greater than the expected number of neoplams in the adrenal cortex occurring in a specific population in a given time period
abnormal cardiac neural crest cell morphology any structural anomaly of the cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs migrate to the circumpharyngeal ridge (an arc-shape ridge located dorsal to the forming caudal pharyngeal arches) and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT); cardiac NCCs contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia
enlarged prostate gland anterior lobe increased size of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles
dilated respiratory conducting tubes expansion or widening of the lumens of the tubes of the respiratory system that allow passage of air from the trachea to the alveoli of the lungs
abnormal sperm motility An anomaly of the mobility of ejaculated sperm.
thin hypodermis reduced thickness of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia
decreased retinal ganglion cell number reduced number of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain
increased pancreas tumor incidence
abnormal melanosome morphology any structural anomaly of the tissue-specific cytoplasmic organelles within which melanin pigments are synthesized and stored
abnormal paneth cell morphology any structural anomaly of the large secretory cells containing coarse granules found at the base of the crypts of Lieberkuhn in the small intestine
abnormal enteric ganglia morphology any structural anomaly or deformity of the groups of nerve cell bodies associated with the enteric neurons
absent pancreatic delta cells absence of the cells found in the pancreas that secrete somatostatin
increased aggression towards females when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward female mice
glomerular crescent formation of a crescent-shaped (semi-lunar) glomerular lesion corresponding to extracapillary proliferation of Bowman's capsular epithelium and acquiring a fibroblast-like spindled morphology, possibly stimulated by release of fibrinogen from a ruptured glomerular basement membrane; epithelial crescents occur in aggressive forms of glomerulonephritis, may be accompanied by collagen and fibrin deposition and/or monocyte and macrophage proliferation, may protrude into Bowman's space, and ultimately compress and destroy the glomerular tuft
abnormal pruritus anomaly in the normal absence or presence of an uncomfortable sensation resulting from irritation of the skin or mucous membranes that evokes the desire or reflex to rub or scratch
increased hepatic hemangioma incidence greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells in the liver, occurring in a specific population in a given time period
abnormal intraepithelial t cell number reduced number of T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements
abnormal allogrooming behavior defects in the standard of behavior in which individuals in a cohort clean or maintain one another's outer body or appearance
tonic seizures increased number or decreased threshold for the induction of a seizure characterized by muscle rigidity
absent semicircular canals missing organ of balance; consists of three bony tubes within which the semicircular ducts are located
abnormal seminal vesicle morphology any structural anomaly of either of the paired sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system; each sac is pyramidal in shape and convoluted in appearance and at the anterior extremity becomes constricted into a narrow straight duct that joins the ipsilateral vas deferens to form the ejaculatory duct; seminal vesicles secrete seminal fluid and nourish and promote the movement of spermatozoa through the urethra
hydronephrosis
decreased follicular dendritic cell number reduced number of cells with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response
absent epididymal fat pad absence of the encapsulated adipose tissue associated with the epididymis
decreased cellular sensitivity to methylmethanesulfonate reduced incidence of cell death following exposure to methylmethanesulfonate
abnormal interatrial septum morphology any structural anomaly of the thin membranous structure between the two heart atria
abnormal granulocyte differentiation atypical production of or inability to produce leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils
fetal bleb presence of subepidermal blister-like structures on the skin, often on the head, formed during embryonic development and usually filled with blood
fusion of vertebral bodies A developmental defect leading to the union of two adjacent vertebrae.
ascending aorta hypoplasia underdevelopment or reduced size of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise, usually due to reduced cell number
retinal hemorrhage Hemorrhage occurring within the retina.
increased renal tubule apoptosis increase in the number of renal tubule cells undergoing programmed cell death
abnormal klrg1+ cd8 alpha beta t cell number anomaly in the number of CD8+ alpha beta T cells that express KLRG1, a marker of effector and memory T cells
increased spinal cord size larger appearance of the spinal cord
mandible hypoplasia
abnormal fetal cardiomyocyte apoptosis change in the timing or the number of fetal cardiomyocytes undergoing programmed cell death
failure to gastrulate inability to differentiate and invaginate the primary germ layers
lung cysts abnormal membranous or fluid-filled sacs appearing in the lung
increased uterus tumor incidence
rete testis obstruction any impediment or blockage of the network of canals at the termination of the straight tubules in the mediastinum testis
abnormal channel response intensity any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded from ion channels
abnormal aggression-related behavior domineering, assaultive or forceful physical action
increased cardiac muscle contractility greater than the normal ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume
irregular coat pigmentation uneven coloration of the hair
abnormal nuchal region morphology any structural anomaly of the posterior region of the neck, including the suboccipital region
absent mandible Absence of the mandible.
abnormal orbit morphology any structural anomaly of the bony ring that supports the eyeball and supporting tissues and is formed by parts of several cranial bones
abnormal white adipose tissue physiology any functional anomaly in the connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels
phthisis bulbi Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.
abnormal branching of the mammary ductal tree anomaly in the development of the channels that secrete milk and direct milk to the nipple
iris atrophy Atrophy of the iris.
disorganized pancreatic islets derangement of the normal pattern of the hormone-producing cells within an islet; normally, the beta cells occupy the central portion of the islet and are surrounded by a corona of alpha and delta cells
abnormal lymphangiogenesis any anomaly in the formation of lymphatic vessels from pre-existing lymphatic vessels
absent otic vesicle absence of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear
abnormal internode morphology any structural anomaly of the intervening axon segment that is located between the juxtaparanodes and is surrounded by a single compact myelin sheath
abnormal circulating hdl cholesterol level any anomaly in the amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion
muscular ventricular septal defect The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.
umbilical hernia A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles.
abnormal meckel's cartilage morphology any structural anomaly of this cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible; gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments
increased igg level An abnormally increased level of immunoglobulin G in blood.
abnormal parathyroid gland physiology any functional anomaly of this paired endocrine gland that normally produces parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism
pericarditis A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain.
midbrain hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes
abnormal nonmotile primary cilium morphology any structural anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate and organize sensory signaling molecules
abnormal diastolic filling velocity anomaly in the rate of fluid inflow to the heart during diastole compared to controls; usually measured in the left ventricle; altered filling velocity often contributes to various cardiovascular disorders
increased circulating free fatty acid level higher than normal levels of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues
increased mature gamma-delta t cell number increased number of a mature T cell expressing an gamma-delta T cell receptor complex
abnormal nervous system development impaired or altered growth of the components of the nervous system
abnormal b-wave shape any anomaly in the graphical representation of the b wave in the electroretinogram; the b wave represents the health of the inner layers of the retina, including the ON bipolar cells and the Muller cells
vasculature congestion obstruction of the normal flux of blood within the blood vessel network
decreased skeletal muscle fiber size decrease in the size of the large multinucleated cells that make up the skeletal muscles
decreased red blood cell distribution width lower than normal coefficient of variance (reference range) of the red blood cell volume for an organism
absent roof plate absence of the single row of specialized glial cells that occupies the dorsal midline of the developing neural tube along the entire anterior-posterior axis; the roof plate serves as a critical embryonic signaling center for the organization of dorsal neuronal cell types, and acts as a barrier preventing axons and cells migrating across the dorsal midline
abnormal serotonin level anomaly in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity
abnormal thyroid hormone level aberrant concentration of any of the hormones secreted by the thyroid gland
complete lethality all individuals of a given genotype in a population die before the end of the normal lifespan but time(s) of death are unspecified
ostium primum atrial septal defect An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum.
abnormal mature b cell morphology any structural anomaly of the mature form of a B cell, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex
small temporal bone reduced size of the large, irregular bone located at the base and side of the skull
increased metanephric mesenchyme apoptosis increase in the number of cells of the metanephric mesenchyme (MM) undergoing programmed cell death; usually due to failure of MM cells to interact with the ureteric bud (UB) tips after UB invasion
decreased hepatobiliary system tumor incidence less than the expected number of tumors originating in the hepatobiliary system in a given population in a given time period
transverse fur striping presence of stripes of pigmented hair, usually black, of variable degree and location in the coat
abnormal professional antigen presenting cell morphology any structural anomaly of a cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response
abnormal palate bone morphology any structural anomaly of the maxillary or palatine shelves that comprise the bones of the hard palate
hemolytic anemia A type of anemia caused by premature destruction of red blood cells (hemolysis).
enlarged alveolar lamellar bodies increased size of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant
pelvic kidney A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.
abnormal vestibular endolymph ionic homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of charged molecules in the vestibular endolymph
distended abdomen Distention of the abdomen.
absent primordial germ cells absence of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge
decreased cd4-positive, alpha beta t cell number reduced number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production
chronic inflammation
enlarged optic nerve increased size of the second cranial nerve which is responsible for conveying visual information from the retina to the brain; it extends from the retina to the optic chiasma where part of its fibers become the optic tract and cross to the opposite side and pass to the geniculate bodies
abnormal intestinal epithelium morphology any structural anomaly of the cellular avascular layer of the digestive tube passing from the stomach to the anus
dilated fourth ventricle An abnormal dilatation of the fourth cerebral ventricle.
absent pancreas absence of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream
abnormal embryonic cilium location or orientation embryonic cilia are displaced from the normal position and/or do not orient in a typical pattern
abnormal linear vestibular evoked potential anomaly in the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal's head); normally, this response is measured by electrophysiological activity of the peripheral vestibular nerve; this assesses the function of the gravity receptor system including the utricles and saccules of the inner ear
absent spleen white pulp absence of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies
abnormal hyoid bone lesser horn morphology any structural anomaly of shorter and more medial of the paired processes on either side of the hyoid bone
abnormal mesoderm development failure or abnormality in the formation of the middle of the three primary germ layers of the embryo (the others being ectoderm and endoderm) during gastrulation; mesoderm is the origin of connective tissues, myoblasts, blood, the cardiovascular and lymphatic systems, most of the urogenital system, and the lining of the pericardial, pleural, and peritoneal cavities
absent malleus Aplasia of the malleus.
acantholysis The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.
decreased brain zinc level reduction in the amount of zinc present in the brain tissue
increased variability of skeletal muscle fiber size greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls
abnormal urine sulfate level any change in the amount of sulfate in the urine
abnormal muscle precursor cell migration defects in the movement of cells that will develop into muscle cells out of the somites and/or to the appropriate location in the body
decreased liver tumor incidence less than the expected number of neoplams in the liver, usually in the form of a distinct mass, in a specific population in a given time period
abnormal reichert's cartilage morphology any structural anomaly of the cartilage found in the mesenchyme of the second pharyngeal arch in the embryo from which develop the stapes, styloid process, lesser horn and upper part of the body of the hyoid bone; its proximal end gives rise to the stylohyoid ligament
absent sclera absence of the fibrous, outer envelope of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea
increased osteochondroma incidence greater than the expected number of a benign cartilagenous neoplasm that consists of a pedicle of normal bone capped by a region of proliferating cartilage cells, occurring in a specific population in a given time period; osteochondroma is most often associated with one or more of the long bones
abnormal melanocyte proliferation anomaly in the ability of the a melanocyte cell population to undergo expansion by cell division
decreased pre-pro b cell number reduced number of pro-B cells that are CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative; this cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive
increased hibernoma incidence greater than the expected number of a benign neoplasm derived from brown fat occurring in a specific population in a given time period
abnormal circulating ammonia level aberrant amount of ammonia or its compounds in blood, formed in the body during organic decomposition
abnormal retinal outer plexiform layer morphology any structural anomaly of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)
absent distortion product otoacoustic emissions failure to create mechanical distortions in the inner ear when two primary tones are presented, indicating failure of outer hair cells to amplify basilar membrane motion
abnormal gland physiology any functional anomaly of an organ that functions as a secretory or excretory organ
decreased inner hair cell stereocilia number decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner hair cells
abnormal inner ear morphology any structural anomaly of any components of the labyrinth, including the semicircular canals, vestibule and cochlea
increased cell mass greater total physical bulk or volume of a cell compared to the normal state
increased trichoepithelioma incidence greater than the expected number of benign hair follicle tumors that lack mature hair follicles, derived from basal cells of the hair follicles enclosing small keratin cysts, occurring in a specific population in a given time period
abnormal forelimb bud morphology any structural anomaly of the limb bud that develops into a forelimb (usually the arm or front limb in mammalian species)
axon degeneration
absent pterygoid process absence of the process projecting downward from either side of the sphenoid bone, in vertebrates divided into two plates, an inner and an outer (sometimes called the lateral and medial); the posterior nares pass through the space, called the pterygoid fossa, between the processes
long mandible increased length of the lower bony framework of the mouth where the inferior teeth are held
other phenotype
abnormal brown fat cell size anomaly in the size of fat cells from the thermogenic form of adipose tissue
absent retinal ganglion cell absence of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain
decreased fibroblast cell migration reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium
premature aging
atelectasis Collapse of part of a lung associated with absence of inflation (air) of that part.
abnormal spinal cord ventral commissure morphology any structural anomaly of the band of nerve fibers which cross the midline of the spinal cord ventral to the central canal and posterior grey commissure
increased schwann cell proliferation increase in the expansion rate of a Schwann cell population by cell division
abnormal blood uric acid level aberrant concentration in the blood of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine
increased oligodendrocyte number greater number of cells of the central nervous system that form the insulating myelin sheath of axons in the CNS
delayed rostral neuropore closure a delay in the fusion of the cephalic neural folds
abnormal spleen follicular dendritic cell network any structural anomaly of the enmeshed group of antigen presenting cells with extensive dendritic processes in the spleen B cell follicle that present antigen to B cells during an immune response
vagina atrophy acquired diminution of the size of the vagina associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
abnormal neurite morphology any structural anomaly of a neuronal process, either a dendrite or an axon in vivo, or a filamentous projection from a neuron such as is seen in tissue culture
decreased hippocampus pyramidal cell number decreased number of the multipolar projection neurons in the hippocampus pyramidal cell layer
failure of conotruncal ridge closure failure of the conotruncal ridges to develop from the conotruncus, meet at the midline and fuse to form the conotruncal septum
increased growth rate reduced length of time to reach a developmental stage or stages
absent spleen marginal zone absence of the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens
impaired skeletal muscle regeneration reduced ability to repair skeletal muscle after injury or disease
increased circulating creatine level increase in the amount per unit of blood of an amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized
delayed eyelid fusion later than average time of the joining of the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye
abnormal cortical ventricular zone morphology any structural anomaly of a transient region of the developing cerebral cortex that contains migrating neurons, radial glial cells, and a large population of cycling multipotent neural stem cells that generate newborn neurons
ovary hyperplasia overdevelopment or increased size, usually due an increased number of cells in the ovary
abnormal vestibular hair cell kinocilium morphology any structural anomaly of the nonmotile primary cilium that is found at the apical surface of vestibular hair cells
abnormal ependyma morphology any structural anomaly of the cellular membrane that lines the brain ventricles and the central canal of the spinal cord
abnormal oviduct epithelium motile cilium morphology any structural anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the oviduct
abnormal energy homeostasis any anomaly in the process involved in the balance between food intake (energy input) and energy expenditure
abnormal mast cell physiology any functional anomaly of the granulated cells found in most tissues and which contain large amounts of histamine and heparin in granules
abnormal respiratory system development aberrant differentiation of pulmonary tissues
abnormal visceral endoderm morphology any structural anomaly of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut
abnormal aldosterone level anomaly in the concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule
absent hypaxial muscle absence of the muscles derived from the lateral myotome and lateral portion of the dermomyotome; these include the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue
decreased skin pigmentation visually detectable dilution of pigment present in the skin
decreased triglyceride lipase activity reduced ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion
premature closure of the ductus arteriosus premature regression of the ductus arteriosus that normally regresses into a fibrous cord, the ligamentum arteriousum after birth
abnormal cerebellum posterior lobe morphology any structural anomaly of the region of the cerebellum that is posterior to the primary fissure and anterior to the posteriolateral fissure
increased igm level An abnormally increased level of immunoglobulin M in blood.
decreased coronary flow rate reduced rate of blood flow in the blood vessels supplying the heart
optic disc coloboma congenital defect of the optic disc in which some part of the structure is absent
decreased metastatic potential reduced likelihood of a tumor cell spreading from the site of the initial tumor formation and forming a secondary tumor at another site not directly connected with it
abnormal circulating non-hdl cholesterol level any anomaly in the amount in the blood of non-HDL cholesterol
absent tectum absence or loss of the rostral part of the midbrain roof
abnorrmal surface ectoderm morphology
abnormal spiral ligament fibrocyte morphology any structural anomaly in the four types of fibrocytes (types I, II , III and IV) that constitute the spiral ligament
abnormal circulating factor ix level
abnormal blood homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood
abnormal mitochondrial crista morphology Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, where the enzymes of electron transport and oxidative phosphorylation are found; the shape can vary with the respiratory state of the mitochondria
detached acrosome detachment or loss of adhesion of the acrosome cap from the sperm head nucleus
retention of the x-zone failure of the transient cortical layer juxtaposed to the medulla and the zona reticularis to degenerate after puberty in males or after pregnancy in females
increased pancreatic islet cell adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the islet cells of the pancreas, occurring in a specific population in a given time period
abnormal sinoatrial node conduction anomaly in the generation or transfer of electrical impulses that trigger contraction of the atria and ventricles
abnormal circulating bicarbonate level aberrant concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood
abnormal body weight anomaly in average weight compared to controls
abnormal kidney outer medulla morphology any structural anomaly of the outer medullary region of the adult kidney containing the short Loops of Henle and collecting ducts
abnormal cd4-positive, alpha beta t cell number anomaly in the number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production
triangular face Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
early cellular replicative senescence increase in the progression of the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division
abnormal immune serum protein physiology abnormal concentration or function of circulating immune proteins
absent aortic valve cusps absence of the three fibrous triangular components and associated flaps of the aortic valve
decreased diameter of radius reduced width of the cross-sectional distance that extends from one lateral edge of the radius, through its center and to the opposite lateral edge
abnormal brain commissure morphology any structural anomaly of any of the nerve fiber tracts that span the longitudinal fissure between the cerebral and/or cerebellar hemispheres of the brain
abnormal pubis morphology any structural anomaly of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis
abnormal axon initial segment morphology any structural anomaly of the short unmyelinated axon segment adjacent to the cell soma where voltage gated channels accumulate and axon potential initiation usually occurs
altered response of heart to induced stress change in the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding
nasal bone hypoplasia Underdevelopment of the nasal bone.
increased adiponectin level greater level of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue
male infertility
skin edema accumulation of an excessive amount of fluid in the skin layers or just underneath the skin
enlarged utricle increased size of the larger of the two sacs in the vestibule
absent kidney papilla absence of the apex (tip) of a renal pyramid i.e. the location where each medullary pyramid empties urine into a minor calyx
abnormal skeletal muscle mass anomaly in the physical bulk, or total amount of matter contained within skeletal muscle
absent trabecular meshwork absence of the pore-like structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates
abnormal myocardium compact layer morphology any structural anomaly of the outer, dense layer of the myocardium uniting the epicardium and myocardium
increased hemangiosarcoma incidence
abnormal palatine gland morphology any structural anomaly of the salivary gland of the hard palate
absent pillar cells absence of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti
absent retinal cone cells absence of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment
small l4 dorsal root ganglion reduced size of the L4 spinal ganglion
abnormal oviduct weight anomaly in the average weight of the tube through which the ova pass from the ovary to the uterus
abnormal luteinizing hormone level aberrant levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary
situs inversus OMIM mapping confirmed by DO. [LS].
absent oligodendrocytes absence of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS
decreased fetal weight reduced weight of a fetus compared to controls (sensu Mus: from E14 through birth)
absent descemet membrane absence of the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea
decreased urine chloride ion level abnormally low amounts of chloride ion in the urine
thick eyelids increased width of the eyelid
kidney cortex hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the outer portion of the kidney, which contains the renal corpuscles, the renal tubules (except for parts of the loop of Henle which descend into the renal medulla), blood vessels and cortical collecting ducts
increased igg1 level greater than normal immunoglobulin class G1 level
abnormal heart left ventricle outflow tract morphology any structural anomaly of the anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta
esophageal ulcer A gastrointestinal system disease that is located_in the esophagus.
disorganized inner root sheath cells disorganization of the epithelial cells that resides in the inner root sheath of the hair follicle
oliguria Low output of urine, clinically classified as an output below 300-500ml/day.
splitting of guard hairs intercellular splits and kinks within or along the hair shaft of the long, straight truncal hairs that contain two air cells in the medulla
delayed endochondral bone ossification late onset of bone formation in bones that form from cartilage
abnormal liver glycogen level abnormal concentration of a readily converted carbohydrate reserve in liver
impaired muscle relaxation
growth retardation of molars developmental delay of the growth of the molars
neurofibrillary tangles Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.
failure to form egg cylinders inability of inner cell mass cells to grow towards the abembryonic pole to form a cylinder-like structure
abnormal heart layer morphology any structural anomaly of the laminar structure of the heart
absent vestibular hair bundle shaft connectors absence of the inter-stereocilial links that connect the shafts of neighboring stereocilia in vestibular hair bundles
abnormal cochlear hair cell inter-stereocilial links morphology any structural anomaly in the morphologically and biochemically distinct link types that extend between the stereocilia of cochlear hair bundles; link types can be distinguished by their relative sensitivities to treatment with calcium chelators and the protease subtilisin; in the mature mouse cochlea, tip links and horizontal top connectors are the only inter-stereocilial links associated with the hair bundle; ankle links and transient lateral links are both prominent features of developing auditory hair bundles
abnormal homeostasis An anomaly in the processes involved in the maintenance of an internal equilibrium.
small thoracic cage reduced size of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum
delayed fertility ability to produce live offspring occurring at a later than expected age
abnormal rhombomere 3 morphology any structural anomaly of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order
abnormal response to radiation any anomaly in the physiological changes induced by ionizing radiation such as UV light, X-rays, or gamma rays
abnormal basement membrane morphology anomaly in the structure, organization and/or placement of the extracellular supportive tissue adjacent to the basal surface of the epithelia, including the epithelium of muscle cells, fat cells and Schwann cells; it is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components and consists of two layers, the basal lamina and the lamina reticularis
abnormal cardiac muscle contractility altered ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume
abnormal ovary weight anomaly in the average weight of the female reproductive gland containing the germ cells
meroanencephaly type of anencephaly in which the brain and cranium are present in rudimentary form
absent organ of corti absence of the highly specialized epithelium in the floor of the ductus cochlearis
abnormal clonal deletion a defect in the process of removal of immature lymphocytes that interact with self antigens during maturation
abnormal maxillary prominence morphology any structural anomaly of the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw
small salivary gland reduced size of the saliva-secreting glands of the oral cavity
abnormal platelet cell number anomaly in the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation
abnormal renal glomerular filtration rate anomaly in the rate of the process in which plasma is filtered through the glomerular membrane, which consists of capillary endothelial cells, the basement membrane, and epithelial cells; the glomerular filtrate is the same as plasma except it has no significant amount of protein
decreased b cell apoptosis reduction in the timing or the number of B cells undergoing programmed cell death
abnormal ureteric bud invasion any anomaly in the process in which the ureteric bud grows into the metanephric mesenchyme, and contributes to the formation of the metanephros
abnormal neural tube ventricular layer morphology any structural anomaly of the layer of undifferentiated, proliferating cells that line the neural tube lumen
abnormal cingulum morphology any structural anomaly of the white matter fiber bundle that projects from the cingulate gyrus to the entorhinal cortex in the brain
small oviduct reduced size of the tube through which the ova pass from the ovary to the uterus
abnormal purkinje cell differentiation atypical production of or inability to produce the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex
abnormal double-positive t cell morphology any anomaly of the subset of T cells found in the thymus that express both CD4 and CD8
absent turbinates absence of the small curved bones that extend horizontally along the lateral wall of the nasal passage
decreased susceptibility to induced arthritis less likely to be stricken with changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures that are induced by inflammatory responses caused by chemical or mechanical agents
abnormal miniature endplate potential defect in the size or duration of spontaneous currents detected in PNS postsynaptic cells that occur in the absence of an excitatory impulse
abnormal monocyte differentiation atypical production of or inability to produce the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood
thin cortical plate reduced thickness of the outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers
small vestibular saccule reduced size of the cavity between the semicircular canals and the cochlea of the inner ear
abnormal lung development anomaly in the process of formation of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs
abnormal circulating lactate level any anomaly of the amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase
decreased cell death decreased occurrence of the cessation of function at the cellular level
abnormal horizontal vestibuloocular reflex any anomaly in the nystagmus or deviation of the eyes in response to stimulation along the horizontal axis of the vestibular system
abnormal nucleated erythrocyte cell number abnormal numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells
abnormal rib-sternum attachment any anomaly in the in the normal joining of the ribs to the sternum
abnormal synaptic bouton morphology any structural anomaly of the knoblike enlargements along the course of axons, or more commonly at the distal terminations of axons which are specialized for the release of neurotransmitters
increased circulating dihydrotestosterone level greater than normal blood concentration of this potent androgenic metabolite of testosterone
abnormal retinal outer nuclear layer thickness anomaly in the thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones
decreased compact bone thickness thinner than normal superficial layer of compact bone
abnormal foot pad morphology any structural anomaly of the body of fat on the foot
decreased liver weight reduced average weight of the bile-secreting exocrine gland
increased deiters cell number increased number of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities
decreased igg2b level less than normal immunoglobulin class G2b level
thin atrioventricular cushion reduced thickness of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal
decreased lysosomal enzyme secretion production or release of glycoprotein hydrolytic enzymes is decreased compared to normal
abnormal leukocyte tethering or rolling anomaly in the transient adhesive interactions between leukocytes and endothelial cells lining blood vessels mediated primarily by selectins and which are typically the first step in cellular extravasation
abnormal white fat cell lipid droplet size anomaly in the size of the single large lipid droplet or vacuole of white fat cells
abnormal aortic arch development anomaly in the process of forming the convex portion of the aorta between the ascending and descending parts of the aorta; including formation of the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery
decreased circulating tumor necrosis factor level reduction in the amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium
decreased circulating iron level less than the normal concentration of iron in the blood
skeletal muscle fibrosis formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process
increased erythrocyte magnesium level increase in the amount in red blood cells of magnesium
decreased circulating lactate level reduced amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase
respiratory epithelium hypertrophy increase in the bulk size of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi; may be due to cell enlargement or excessive production/accumulation of mucus material
rostral body truncation rostral part of body truncated; typically with the caudal portion of the body relatively normal
chronic pancreas inflammation persistent inflammatory response in the pancreas, often caused by persistent infection or during an autoimmune response
abnormal kidney outer medulla inner stripe morphology any structural anomaly of the deep, centrally located portion of the renal outer medulla that is traversed by thin descending and thick ascending portions of the loops of Henle
abnormal podocyte foot process morphology any structural anomaly of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries
renal necrosis morphological changes resulting from pathological death of renal tissue; usually due to irreversible damage
bulbourethral gland hyperplasia overdevelopment or increased size, usually due an increased number of cells in the bulbourethral gland
decreased renal vascular resistance less than the normal force opposing blood flow in the kidney blood vessels
rectal prolapse
abnormal third pharyngeal arch artery morphology any structural anomaly of the vessels formed within the third pair of branchial arches in embryogenesis
decreased interleukin-1 alpha secretion reduction in the production or release of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active
anovulation
abnormal hair follicle orientation misaligned hair follicles; hair follicles that do not orient in a typical pattern
thick hippocampus stratum oriens
craniofacial asymmetry Asymmetry of the bones of the skull and the face.
abnormal ciliary body pigmentation anomalous coloring of the thickened portion of the vascular tunic, which lies between the choroid and the iris
enlarged chest wider diameter, or distended chest cavity
abnormal intestinal calcium absorption any anomaly in the ability of the body to take up calcium into the blood by absorption from the small intestine
increased activation-induced b cell apoptosis increased frequency of B cell apoptosis that occurs upon engagement of either the B cell receptor or CD40, but not both; the engagement leads to expression of fas or related receptors that make the B cell susceptible to fas-ligand mediated death
absent corneal endothelium absence of the single layer of large flattened cells that cover the surface of the cornea
complete atrioventricular septal defect A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.
flat face Absence of concavity or convexity of the face when viewed in profile.
dilated heart right ventricle the luminal space of the lower right chamber of the heart is increased in volume or area, usually with an increase in contained fluid
decreased melanocyte number reduced number of the cells that produce pigment
decreased circulating interleukin-12b level reduction in the amount in the blood of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23
retinal spots the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits
abnormal circulating creatine kinase level any anomaly in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
myopathy A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
decreased naive b cell number reduced number of mature B cells which have not yet been activated by antigen
enlarged adrenal medulla increased size of the inner portion of the adrenal gland that consists mainly of chromaffin cells
decreased mean corpuscular hemoglobin concentration less than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices
abnormal granulocyte physiology any functional anomaly of neutrophils, eosinophils, or basophils
low sweet preference subjects demonstrate a low predilection for sweet tasting substances over other offered substances
increased vasodilation greater than the expected or normal widening of the lumen of the blood vessels
increased fibroadenoma incidence greater than the expected number of a benign mammary gland tumor composed of both fibrous tissue and glandular tissue, in a specific population in a given time period
increased placenta intervillous maternal lacunae size increased size of the spaces of the placenta occupied by maternal blood, into which the fetal labyrinth villi project
dilated posterior semicircular canal stretched or widened aperture of the luminal space of the posterior semicircular canal
maxillary shelf hypoplasia underdevelopment, usually due to a deficiency in the number of cells, of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate
abnormal airway basal cell differentiation abnormal or arrest of differentiation of the long-lived multipotent stem cell population of the pseudostratified airway epithelium; changes in the lineage choice of BCs or their undifferentiated daughters might contribute to the mucous cell hyperplasia, metaplasia or squamous metaplasia seen in many respiratory disorders
small scala media reduced size of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani
dysphagia Difficulty in swallowing.
abnormal pancreas weight anomaly in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream
decreased palatine bone horizontal plate size reduced size of the bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate
small thoracic cavity reduced size of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway
rathke's pouch hypoplasia underdevelopment or reduced size of Rathke's pouch, usually due to a reduced number of cells
abnormal myocardium layer morphology any structural anomaly of the middle layer of the heart, comprised mainly of striated cardiac muscle fibers
ectopic dopaminergic neuron abnormal location of one or more of the neurons that utilize dopamine as a neurotransmitter
small superior vagus ganglion reduced size of the upper ganglion of the vagus nerve located at the jugular foramen
abnormal nervous system physiology any functional anomaly of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that receive and interpret stimuli and transmit impulses to effector organs to control body functions
kidney cortex cysts
type i spiral ligament fibrocyte degeneration degeneration or loss of type I spiral ligament fibrocytes which occupy the region beneath the stria vascularis
small mandible Developmental hypoplasia of the mandible.
calcified intraocular region pathologic deposition of calcium salts in the eye
abnormal seizure response to inducing agent anomaly in the seizure activity response to an agent that normally can induce uncontrolled electrical activity in the brain, producing a physical convulsion and/or minor change in physical behavior
increased a wave latency increase in the time from onset of stimulus to beginning of the a wave
abnormal platelet morphology An anomaly in platelet form, ultrastructure, or intracellular organelles.
increased synaptic depression increase in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation
abnormal pleura morphology any structural anomaly of the serous membrane surrounding the lungs and lining the walls of the pleural cavity
decreased glutathione level reduction in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine
complete embryonic lethality during organogenesis death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
clavicle hypoplasia
adrenergic chromaffin cell hyperplasia an increase in the number of the cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion
wide frontal bone increased width of the bone forming the forehead and roof of the eye orbit
abnormal eye development malformation or arrest of differentiation of the visual organ
porphyria An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
absent pancreatic beta cells absence of the cells of the pancreas that secrete insulin
liver/biliary system phenotype
decreased fetal derived definitive erythrocyte cell number reduced number of fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins
reduced female fertility reduced ability of female to produce live offspring
abnormal peripheral t cell anergy any anomaly of the processes of T cell anergy that occur outside the thymus
muscle tetany a condition of mineral imbalance in the body that results in severe muscle spasms occurring when the concentration of calcium ions (Ca++) in extracellular fluids such as plasma falls below normal
abnormal umbilical cord blood vessel morphology any structural anomaly of the three blood vessels, usually one large umbilical vein and two small umbilical arteries, buried within Wharton's jelly, that transport blood to and from the placenta, where exchange between the mother and fetus takes place; the umbilical vein carries oxygenated, nutrient-rich blood from the placenta to the fetus, and the umbilical arteries carry deoxygenated, nutrient-depleted blood from the fetus to the placenta
absent jejunum missing portion of the small intestine that extends from the duodenum to the ileum
diastematomyelia
decreased thermal nociceptive threshold a lower than average point at which thermal pain sensation is first detectable
abnormal bitter taste sensitivity changes in the ability to perceive a particular flavor or suggestion of something bitter by the chemoreceptors of the gustatory system
absent enteric neural crest cell absence or loss of the neural crest cells that arise predominantly from the vagal region of the neural tube (vagal neural crest), adjacent to somites 1-7 and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut
increased interleukin-1 alpha secretion increase in the production or release of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active
decreased susceptibility to noise-induced hearing loss less than normal reduction in hearing sensitivity following exposure to acute noise that is injurious to the cochlea
abnormal circulating creatinine level An abnormal concentration of creatinine in the blood.
abnormal sensory neuron morphology any structural anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses
impaired balance reduced ability of an animal to maintain equilibrium
decreased dn2 thymocyte number reduced number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive
abnormal right subclavian artery morphology any structural anomaly of the artery that normally extends from the brachiocephalic artery to the right side of the body
abnormal trigeminal motor nucleus morphology any structural anomaly of the group of motor neurons innervating the muscles of mastication
increased submandibular gland size increased size of either of the large major salivary glands situated beneath the mandible
abnormal cerebral cortex morphology any structural anomaly of thin layer of grey matter on the surface of the cerebral hemisphere that develops from the telencephalon and folds into gyri; it is responsible for intellectual faculties and higher mental functions
calcified muscle pathologic deposition of calcium salts in muscle
increased igg2b level greater than normal immunoglobulin class G2b level
thick ears increased width of the epidermal and cartilaginous tissue that makes up the ear
decreased anxiety-related response when compared to controls, subjects exhibit fewer responses thought to be indicative of anxiety in behavioral tests
decreased activated t cell number reduced numbers of effector T cells
sertoli cell hypoplasia decreased number of cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis
decreased bone marrow cell number
absent supraoccipital bone absence of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young
oroticaciduria A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.
muscle phenotype
abnormal chloride level any change in the amount of chloride, the major extracellular anion in mammals; it plays roles in tissue fluid homeostasis and also helps maintain proper blood volume, blood pressure, and body fluid pH
abnormal circulating interleukin-6 level anomaly in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts
abnormal cervical axis morphology any structural anomaly of the second cervical vertebra (C2) which forms the pivot upon which the first cervical (atlas, C1) vertebra rotates
abnormal placenta fetal blood space morphology any structural anomaly of the spaces of the placenta occupied by fetal blood, primarily within the fetal labyrinth villi
abnormal gamma-delta intraepithelial t cell morphology any structural anomaly of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements
abnormal histamine physiology any functional anomaly of this amine that is involved in local immune response, in regulating physiological function in the gut, and that acts as a neurotransmitter
schistocytosis The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.
decreased neutrophil cell number
impaired glucose tolerance
thin hair follicle inner rooth sheath reduced thickness of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath
abnormal barrel cortex morphology any structural anomaly of the discrete functional units of the somatosensory cortex that processes tactile information derived from the vibrissae
abnormal hemoglobin content deviation from the normal total hemoglobin content in the circulating blood
protruding tongue Tongue extending beyond the alveolar ridges or teeth at rest.
abnormal hair follicle melanin granule distribution anomaly in the spatial arrangement of particles produced by melanocytes that confer color in the hair follicle
absent tunnel of corti complete absence of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti
hyperventilation Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.
absent adrenal medulla absence of the inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine
decreased compact bone volume less than normal amount of space occupied by compact bone tissue in the skeleton
abnormal phrenic nerve innervation pattern any changes in the placement, morphology or number of phrenic nerve fibers providing motor supply to the diaphragm as well as sensory fibers to the central tendon, or in the thorax, phrenic nerve sensory fibers to the mediastinal pleura and pericardium
curly vibrissae coiled or spiral shape of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors
decreased circulating free fatty acid level lower than normal levels of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacylglycerols are taken into tissues
absent amnion absence of the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected
enlarged caput epididymis increase in the average size of the head of the epididymis
thick tricuspid valve an increase in the ratio of the tricuspid valve wall thickness to the atrioventricular septum thickness
elongated vertebral body increased length of the main cylindrical portion of the vertebra ventral to the vertebral canal
decreased angiotensin i-converting enzyme activity reduced activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin
abnormal oropharyngeal lymphoid tissue morphology any structural anomaly of the circular lymphoid tissue formed by the lingual, pharyngeal, and facial tonsils
abnormal cardiomyocyte apoptosis change in the timing or the number of cardiac muscle cells undergoing programmed cell death
enlarged lung increased size of the lung compared to controls
aspartylglucosaminuria OMIM mapping confirmed by DO. [SN].
increased pituitary gland apoptosis increase in the number of any cells of the pituitary gland undergoing programmed cell death
abnormal endocrine pancreas physiology any functional anomaly of the smaller portion of the pancreas that secretes a number of hormones into the blood stream that are produced by the cells in the islets of Langerhans
abnormal cytotoxic t cell cytolysis altered ability of cytotoxic T cells to induce pathological breakdown of target cells by the destruction of their outer membrane
abnormal bronchial provocation anomaly in the results of measures of responsiveness to allergens, pharmacological solutions, or control solutions
thick placenta labyrinth increase in the width of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood
abnormal small intestine morphology any structural anomaly of the portion of the digestive tube between the stomach and the cecum, consisting of the duodenum, ileum and jejunum
impaired hematopoiesis atypical process of blood cell formation with the result of fewer of these cells being formed
absent glomerular endothelium fenestra absence of the large plasma membrane-lined circular pores that normally perforate the flattened glomerular endothelium; loss of fenestrae may lead to a reduction in the glomerular filtration rate or proteinuria
abnormal golgi apparatus morphology any structural anomaly of the compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack; Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations
ruffled hair fuzzy, irregular appearance of the hair
increased incidence of tumors by ionizing radiation induction higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays
abnormal exploration in a new environment anomaly in the amount of time spent investigating new location
abnormal circulating interleukin-10 level anomaly in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation
increased rhabdomyosarcoma incidence greater than the expected number of a malignant tumor derived from skeletal (striated) muscle, occurring in a specific population in a given time period
abnormal esophageal smooth muscle morphology any structural anomaly of the nonstriated, involuntary muscle tissue lining the esophagus
absent sublingual duct absence of the canals that drain the sublingual gland
decreased body surface temperature reduced degree of heat natural to skin-environment interface of a living being
tubulointerstitial nephritis
abnormal semilunar valve morphology any structural anomaly of the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk
decreased b cell number fewer than normal number of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity
decreased renal plasma flow rate less than the normal volume of plasma passing through the kidney per unit time
increased compact bone volume greater than normal amount of space occupied by compact bone tissue in the skeleton
peritoneal inflammation local accumulation of fluid, plasma proteins, and leukocytes in the membrane that lines the abdominal cavity and covers most of the viscera
absent neuronal precursor cells absence of the neuroblast embryonic cells that develop into nerve cells or neurons
athetotic walking movements
small facial motor nucleus reduced size of the group of motor neurons residing in the pons that innervate the muscles of facial expression
abnormal forestomach morphology any structural anomaly of the distinct rodent non-glandular region of the stomach which is demarcated from the glandular stomach by the limiting ridge (margo plicatus); the forestomach accounts for about 60% (rat) and 70% (mouse) of the stomach volume and receives the esophagus at the cardiac antrum; the wall of the forestomach consists of, from inside to outside, stratified squamous epithelium, the lamina propria (epithelium and lamina propria form the mucosa), the muscularis mucosae, the submucosa, the muscularis interna and externa (inner circular and outer longitudinal layers of smooth muscle), and the serosa
abnormal anterior commissure pars posterior morphology any structural anomaly of the large posterior part of the anterior commissure which connects the right and left temporal lobes
choanal atresia OMIM mapping confirmed by DO. [SN].
abnormal sperm end piece morphology any structural anomaly in the short remaining region of the sperm flagellum, which contains only the axoneme surrounded by the plasma membrane
abnormal interleukin-10 secretion anomaly in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation
abnormal urine phosphate level any change in the amount of phosphate in the urine
abnormal retinal blood vessel pattern anomaly in the systematic arrangement of the blood vessels supplying the retina
abnormal impulse conducting system conduction any functional anomaly in the impulse-conducting system composed of modified cardiac muscle and having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart
abnormal copper level anomaly in the concentration in the body of the metallic element atom that has formula Cu, and normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins
abnormal small intestinal transit time increase or decrease in the time it takes for a bolus of material to pass through the small intestine
abnormal kidney pelvis morphology any structural anomaly of the funnel shaped proximal portion of the ureter that is formed by convergence of the major calices
abnormal corticosterone level anomalous blood or tissue amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion
abnormal circulating bilirubin level any anomaly in the concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells
abnormal fourth ventricle morphology any structural anomaly of the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space
abnormal circulating phosphate level any anomaly in the blood concentrations of the salt or ester of phosphoric acid
shortened qt interval Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
abnormal seminiferous tubule size alteration in the diameter of the tubules in the testes where spermatogenesis occurs
abnormal cumulus oophorus atypical formation of or inability to produce a mass of epithelial granulosa cells around the oocyte in the maturing Graafian follicle; the cumulus oophorus begins to expand dramatically when cumulus cells are induced to synthesize hyaluronic acid which aggregates in a viscous intercellular matrix
absent vitelline blood vessels absence of the vascular network that supplies the yolk sac
gastrointestinal ulcer any lesion on the mucosal surface of the gastrointestinal tract, usually produced by the sloughing of inflammatory necrotic tissue
increased hemolymphoid system tumor incidence greater than the expected number of tumors originating in the hemolymphoid system in a given population in a given time period
enlarged seminal vesicle increased size of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens
abnormal hindlimb bud morphology any structural anomaly of the limb bud that develops into a hindlimb (usually the leg or back limb in mammalian species)
herniated abdominal wall
decreased circulating leptin level less than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance
everted embryonic neuroepithelium an inside-out appearance of the embryonic neuroepithelium characteristic of defective primary neurulation resulting from failure of neural fold elevation; everted neural folds assume a convex instead of a concave morphology and fail to bend toward each other and fuse at the dorsal midline leading to exencephaly
decreased brown fat lipid droplet number reduction in the number of the multiple small droplets of triglycerides found in brown adipocytes
decreased presacral vertebrae number reduced number of the vertebrae anterior to the sacrum
increased susceptibility to parasitic infection induced morbidity/mortality increased likelihood that an organism will display the expected moribund state caused by a parasitic invasion or from components of or toxins produced by parasites
abnormal tail hair pigmentation an anomaly in the expected coloration of hair on the dorsal and/or ventral surface of the tail
increased circulating mineralocorticoid level greater than normal blood concentration of corticosteroids that influence water and electrolyte metabolism and balance
abnormal dopaminergic neuron morphology any structural anomaly of the neurons that utilize dopamine as a neurotransmitter
myelencephalic blebs presence of blister-like structures formed on the posterior portion of the embryonic hindbrain that are usually filled with blood
ectopic digits positional abnormality of a digit
absent submandibular gland absence of either of the large major salivary glands situated beneath the mandible
positive geotaxis mice, when placed on a downward on a slanting grid, walk down without turning around, or exhibit a delay in turning around, whereas wild type mice will always turn around and walk upward
abnormal palatal rugae morphology any structural anomaly in the series of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species; rugae are present on each side of the median palatal raphe and behind the incisive papillae, but their number and arrangement are species specific; together with the teeth and the tongue, rugae take part in mastication by helping to sense, hold and mash the food; rugae harbor various types of intraepithelial sensory structures (such as Merckel cells, corpuscular endings and free nerve endings), and play a sensory role when the food is pressed by the tongue against the hard palate
abnormal fat cell morphology any structural anomaly of a fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals
failure of initiation of embryo turning failure to begin the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage
absent external auditory canal
decreased susceptibility to systemic lupus erythematosus reduced likelihood that an organism will develop inflammatory connective tissue symptoms characteristic of lupus including skin rash, arthritis and inflammation of different organs
abnormal hensen cell morphology any structural anomaly in the supporting cells that form the lateral border of the organ of Corti, immediately to the outer side of Deiters' cells
absent otoliths absence of the crystalline calciferous particles adhering to the otolithic membrane
absent sebaceous gland absence of the holocrine glands of the dermis that secrete sebum into the hair follicles
abnormal phagocyte morphology any structural anomaly of cells capable of ingesting particulate matter via phagocytosis
increased cardiac output greater than normal blood volume pumped by each ventricle per minute
pulmonary hyperplasia overdevelopment or increased size, usually due an increased number of cells of the respiratory organ in all or part of the organ
increased susceptibility to parasitic infection greater likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by parasites
abnormal polar trophectoderm morphology any structural anomaly of the trophectoderm portion that surrounds the inner cell mass (ICM); unlike mural trophectoderm cells which stop proliferating and become large polyploid cells (the primary trophoblastic giant cells) by endoreduplication, polar trophectoderm cells remain diploid, continue to proliferate and give rise to both the ectoplacental cone and the extraembryonic ectoderm
absent subcommissural organ absence of the circumventricular organ derived from ependymal cells that is located at the junction of the third ventricle and the cerebral aqueduct and which secretes somatostatin
abnormal telencephalon development anomaly in the progression of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures, and is considered to be the seat of conscious mental processes; it develops from the anterior-most embryological division of the brain that develops from the prosencephalon
small utricle reduced size of the larger of the two sacs in the vestibule
abnormal behavioral response to light unexpected change in the activity of an organism (in terms of movement, outward responses) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light
thin urinary bladder urothelium decrease in the thickness of the transitional epithelial layer of the urinary bladder
myoclonus Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
decreased susceptibility to ischemic brain injury less severe response, such as necrotic tissue size, to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of all or part of the brain tissue, compared to controls
adrenal cortical hyperplasia overdevelopment of the thick outer layer of the adrenal gland that produces and secretes steroid hormones, usually due to an increase in the number of cells
absent somatotrophs absence of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin
small mesencephalic trigeminal nucleus reduced size of the group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve
cardiac muscle degeneration pathological deterioration of cardiac muscle tissue, often accompanied by loss of function
thick hypodermis increase in the width of the irregular layer of loose connective tissue containing fibroblasts, adipose cells, and macrophages, that is immediately deep to the skin and superficial to the deep fascia
abnormal noradrenaline level aberrant amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine
thin body lean or slender in form
cervical aortic arch The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.
absent keratohyalin granules absence of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function
abnormal fetal ductus arteriosus morphology any structural anomaly of the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth
small intestinal prolapse
abnormal urine chloride ion level any change in the amount of chloride ion in the urine
abnormal heart iron level anomaly in the amount of iron present in the heart tissue
abnormal interleukin-9 secretion anomaly in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells
abnormal mandibular nerve branching malformed or misprojected axons of the mandibular nerve
abnormal white adipose tissue morphology any structural anomaly of the connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels
abnormal immunoglobulin heavy chain v(d)j recombination any anomaly in the process by which V, D, and J gene segments of the immunoglobulin heavy chain are recombined
thin retinal inner plexiform layer reduced thickness of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites
increased mammary gland epithelium proliferation increase in the expansion rate of the cells of the mammary gland epithelium by cell division
epithelioid cysts abnormal membranous sacs appearing in an epithelium
abnormal myocardial fiber physiology anomaly in the function of the terminally differentiated, non-proliferative, multinucleated muscle cells of the heart
abnormal tympanic ring morphology any structural anomaly of the bony ring at the ear canal to which the tympanic membrane is attached
decreased total lung capacity reduced volume of air contained in the lungs at the end of maximal inspiration
partial embryonic lethality during organogenesis the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
platyspondylia
abnormal cochlear outer hair cell electromotility anomalous motility of the cochlear OHCs in response to electrical stimulation; normally, the motile response (i.e. rapid change in length and stiffness of OHCs) is closely coupled to the changing transduction current and provides a region-specific amplification in the movement of the spiral organ that enhances transduction at the IHCs in that specific region of the cochlear spiral, increasing both sensitivity and specificity; electromotility is believed to arise through voltage-gated conformational changes in motor protein (prestin) or proteins located in the lateral wall of the OHC
abnormal igg3 level deviation from the normal levels of immunoglobulin class G3 level
small tail bud decreased size or area of the primordial region of the embryo that arises to form the tail of the adult
eyelid hypoplasia underdevelopment or reduced size of the skin folds covering the front of the eyeball, usually due to a decreased cell number
abnormal chemokine level deviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes
increased midbrain apoptosis increase in the number of cells of the midbrain undergoing programmed cell death
abnormal carbon dioxide production deviation from the normal rate at which carbon dioxide leaves the blood and enters the alveolar gas
abnormal skin pigmentation An abnormality of the pigmentation of the skin.
increased fluid intake increase in the total amount of fluid taken in over time when compared to the normal state
hyperresponsive increased reaction to touch
increased double-negative t cell number greater than expected numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8
abnormal olfactory epithelium cilium morphology any structural anomaly of the cilia of the epithelial cells that line the interior of the nose
abnormal digit morphology any structural anomaly of the fingers or toes
narrow eye opening
abnormal caudal neuropore morphology any structural anomaly of the temporary opening at the extreme caudal end of the neural tube in early embryos; the posterior neuropore appears before the process of neural tube closure is complete
ectopia lentis Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
abnormal primitive node morphology any structural anomaly of the regional thickening of cells at the rostral tip of the vertebrate primitive streak through which gastrulating cells migrate anteriorly to form tissues in the future head and neck; this region organizes the formation of the three embryonic layers and establishes the longitudinal axis and the polarity of the embryo
vertebral fusion A developmental defect leading to the union of two adjacent vertebrae.
abnormal dna methylation during gametogenesis any anomaly of the covalent transfer of a methyl group to C-5 of cytosine during gamete generation, when DNA methylation patterns are established
absent outer hair cell stereocilia complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells
abnormal preputial gland morphology any structural anomaly of the paired, lobulated, modified sebaceous glands located in the inguinal region adjacent to the penis and vagina, with pheromonal functions in male rodents; in males, the preputial gland empties into the preputial cavity and in females, the preputial (aka clitoral) gland duct empties into the clitoral fossa
abnormal pillar cell differentiation abnormal differentiation of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti
decreased susceptibility to induced muscular atrophy less than expected wasting of muscle tissue after experimental manipulation (starvation, neurectomy, immobilization, etc)
absent hippocampus stratum oriens
dilated mitochondria the luminal space of the mitochondria is increased in volume or area, usually with an increase of contained fluid
abnormal germinal center b cell morphology any structural anomaly of a rapidly cycling mature B cell which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen
incomplete somite formation arrest of differentiation or patterning of the somites
small metanephros reduced size of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord
absent lens vesicle absence of the ectodermal invagination that forms opposite the optic cup in the primordium of the lens of the eye
short outer hair cell stereocilia reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells
abnormal thoracic vertebrae morphology any structural anomaly of any or all of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae
abnormal erythrocyte ion content abnormal quantity in red blood cells of atoms carrying an electric charge
abnormal ligament morphology any structural anomaly of the flexible bands of fibrous tissue that connect the articular extremities of bones
turbinate hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in the small curved bones that extends horizontally along the lateral wall of the nasal passage
abnormal loop of henle ascending limb morphology any structural anomaly of the distal part of the loop of Henle that is impermeable to water and actively pumps sodium out of the filtrate to generate the hypertonic interstitium that drives countercurrent exchange; it consists of an initial very thin segment lined by simple squamous epithelium followed by a distal thick segment lined by simple cuboidal epithelium
dilated heart left ventricle the luminal space of the lower left chamber of the heart is increased in volume or area, usually with an increase in contained fluid
abnormal vascular smooth muscle morphology any structural anomaly of the nonstriated, involuntary muscle tissue of the blood vessels
abnormal blood vessel physiology any functional anomaly of any of the tubes that convey blood including the arteries, arterioles, capillaries, venules, and veins
decreased thyrotroph cell number reduced number of an anterior pituitary cell that produces thyroid-stimulating hormone
abnormal retrosplenial region morphology any structural anomaly of one of the key brain regions required for cognitive functions, including episodic memory, navigation, imagination and planning for the future; the retrosplenial region can be divided into three parts, the retrosplenial granular cortex A, the retrosplenial granular cortex B and the retrosplenial dysgranular cortex; each subdivision of the retrosplenial cortex projects to a discrete terminal field in the hippocampal formation
portal hypertension
increased adenocarcinoma incidence higher than normal incidence of a malignant neoplasm of epithelial cells in a glandular or glandular-like pattern
abnormal blood vessel morphology any structural anomaly of the network of tubes that carries blood through the body
increased susceptibility to pharmacologically induced seizures inability to withstand doses of pharmacological drugs that induce seizure activity in normal animals; exhibit a lower threshold to induce seizure activity
abnormal cochlear ohc efferent innervation pattern any changes in the morphology or number of efferent terminals, occurring as clusters, in the cochlear OHC region; normally, medial olivocochlear neurons, which are primarily found in rostral and ventral periolivary regions, project mainly to the contralateral cochlea, and terminate directly on OHCs
failure of primitive streak formation inability to form the epiblast ridge from which arises the germ layers of the embryo
small scapula Underdeveloped scapula.
abnormal intestinal iron level anomaly in the amount of iron present in the large or small intestinal tissue
decreased body size smaller than average body weight, height and/or length of an organism compared to controls
abnormal pterygoid bone morphology any structural anomaly of the bone region which corresponds to the inner plate of the pterygoid process of the mammalian skull
abnormal mature ovarian follicle morphology any structural anomaly in the ovarian follicle that is ready for ovulation and presents a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle
abnormal pns glial cell morphology any structural anomaly of non-neuronal cells that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons
increased cellular sensitivity to ionizing radiation increased incidence of cell death following exposure to ionizing radiation
increased brown fat cell lipid droplet size increase in the size of the multiple small droplets of triglycerides found in brown adipocytes
atrial septal aneurysm A bulging of the interatrial septum towards one side. IN adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.
decreased platelet aggregation
abnormal primitive urogenital sinus morphology any structural anomaly of the ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females
abnormal nephrogenic zone morphology any structural anomaly in the region found at the periphery of the developing metanephros within which the metanephric mesenchyme aggregates around the tips of the ureteric tree to form the nephrons; in rodents including mice, this region normally disappears within the first postnatal week when nephrogenesis ceases and only mature nephrons are present; in humans, it is lost by 36 weeks of gestation
abnormal spiral modiolar artery morphology any structural anomaly of the artery which parallels the spiral ganglion in the root of the spiral lamina of the modiolus, serving the ganglion and the cochlear duct and its contents
abnormal renal water reabsorbtion any anomaly in the process by which water is passively transported out of the renal tubules back into the bloodstream
small trigeminal ganglion reduced size of the trigeminal ganglion
increased susceptibility to bacterial infection greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria
small parathyroid gland decreased size of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism
abnormal kidney morphology
increased blastoma incidence
dilated brain ventricles the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid
delayed suture closure late onset of the fusion of the bones of the skull
abnormal circulating interferon level anomaly in the amount in the blood of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions
abnormal heart right ventricle outflow tract morphology any structural anomaly of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk
necrospermia condition in which spermatozoa in seminal fluid are dead or motionless
abnormal iron homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of iron that normally is a cofactor in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes
decreased total fat pad weight less than average weight of the fat pads
decreased uterus weight reduction in the weight of the female organ of gestation
abnormal cued conditioning behavior anomaly in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash)
reduced long term depression less than the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of CA1 neurons
abnormal lateral geniculate nucleus morphology any structural anomaly of the group of neurons that serve as the primary processor of visual information received from the retina via the optic tract and send processed information to the visual cortex of the occipital lobe
skeletal muscle necrosis morphological changes resulting from pathological death of skeletal muscle tissue; usually due to irreversible damage
cerebral aqueductal stenosis
abnormal subclavian artery morphology any structural anomaly of the right or left subclavian arteries; the right subclavian artery normally extends from the brachiocephalic artery to the right side of the body and the left subclavian artery extends from the aortic arch to the left side of the body
abnormal osteoclast physiology any functional anomaly of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue
abnormal visceral pleura morphology any structural anomaly of the pleura layer attached to and covering the lungs, and which intercalates into the fissures between the lobes
impaired acrosome reaction reduced ability or inability to execute the cellular exocytosis of a single, anterior secretory granule following a sperm's attachment to the zona pellucida surrounding an oocyte
abnormal cranial neural crest cell morphology any structural anomaly of the neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage
single kidney
abnormal lateral plate mesoderm morphology any structural anomaly of the portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures
abnormal conjunctiva morphology any structural anomaly of the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball
decreased seminal vesicle weight reduction in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens
increased vertical stereotypic behavior increase in the frequency of vertical crossings (greater than one per second)
increased lymphocyte cell number greater than normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells
increased gastrocnemius weight increase in the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles
increased squamous cell carcinoma incidence higher than normal incidence of a carcinoma that arises from stratified squamous epithelium that occurs in sites where glandular or columnar epithelium is normally present, such as the skin, esophagus, lungs and cervix
increased harderian gland tumor incidence greater than the expected number of neoplams in the Harderian gland, usually in the form of a distinct mass, in a specific population in a given time period
abnormal uterine spiral artery morphology any structural anomaly of the corkscrew-like arteries in premenstrual or progestational endometrium; uterine spiral arteries play a vital role in supplying nutrients to the placenta and fetus, and are thus remodeled into highly dilated inelastic vessels by the action of invading trophoblast (physiological change)
reduced nmda receptor mediated synaptic activity in barrel cortex lower than normal levels of excitatory synaptic current in the barrel cortex
vascular smooth muscle cell hyperplasia increased numbers of smooth muscle cells in the vascular wall
abnormal dermomyotome development any structural anomaly of the portion of the embryonic somite that remains after migration of the sclerotomic tissue
enlarged interparietal bone increased size of the bone of the cranium that lies above and anterior to the occipital bone in some mammals
absent thyroid gland isthmus absence of the narrow median bridge that joins together the lower thirds of the two lateral (right and left) lobes of the thyroid gland
abnormal proamniotic cavity morphology any structural anomaly of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds
abnormal arcus anterior morphology any structural anomaly in the arch that connects the lateral masses of the atlas anteriorly and articulates with the anterior articular facet of the dens of the axis
absent caudal vertebrae absence of all of the bony segments of the coccyx or tail
delayed balanopreputial separation the separation of the prepuce from the glans penis (balanus), a result of the cornification of the balano-preputial epithelium, occurring at a later than expected age; balanopreputial separation is used as an index for the onset of male puberty and is androgen-sensitive in the rat
decreased retinal rod cell number reduced number of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane
enlarged frontal bone increased size of the bone forming the forehead and roof of the eye orbit
abnormal gamma-delta t cell differentiation atypical production of or inability to produce gamma-delta T cells, and/or accumulation of gamma-delta T cell precursors
decreased intestinal calcium absorption reduced ability of the body to take up calcium into the blood by absorption from the small intestine
abnormal glial cell physiology any functional anomaly of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons
increased circulating gastrin level greater concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters
absent endometrial glands absence of the simple or branched tubular uterine glands
postnatal growth retardation Slow or limited growth after birth.
abnormal heart morphology Any structural anomaly of a heart.
split xiphoid process
abnormal spinal cord motor column morphology any structural anomaly of the subclasses of motor neurons which are organized into longitudinally oriented columns that occupy distinct and, in some cases, discontinuous domains along the rostrocaudal axis of the spinal cord; motor neurons within a single column send their axons to a common peripheral target
abnormal melanocyte number deviation from the average number of the cells that produce pigment
abnormal interleukin secretion anomaly in the production or cellular release of soluble factors which stimulate growth-related activities of leukocytes and other cell types, that can act to enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli
otocephaly a structural anomaly of the head consisting of absence or malformation of the lower jaw and the ears united or closely approaching below the face
increased hematopoietic cell number greater than expected number of cells of the hematopoietic lineage
increased excitatory postsynaptic current amplitude increase in the size (height or maximum displacement) of the evoked excitatory postsynaptic current wave
abnormal cell differentiation anomaly in the process whereby relatively unspecialized cells, e. g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history
decreased retroperitoneal fat pad weight less than average weight of the encapsulated adipose tissue found on the dorsal side of the peritoneum
abnormal tendon stiffness altered ability of tendon to maintain tensile strength and load
decreased body height A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to short stature as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
abnormal enterocyte proliferation anomaly in the ability of the enterocyte cell population to undergo expansion by cell division
impaired swimming reduced ability or inability to swim
increased length of allograft survival compared to controls, a greater length of time that transplanted tissue, in which the donor and recipient are genetically similar (same species) but not genetically identical, retains function and/or remains alive
abnormal type i hypersensitivity reaction anomaly in a reaction manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks
increased urine microglobulin level greater than the normal amount of any globulin (or any fragment of a globulin) of low molecular weight in the urine
thick ventricular wall increased depth of the cardiac wall of the heart ventricles
abnormal spatial learning anomaly in the ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues
enhanced behavioral response to nicotine increased sensitivity to nicotine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response
adactyly The absence of all phalanges of all the digits of a limb and the associated soft tissues.
thick epidermis suprabasal layer increased thickness of the suprabasal layer of the epidermis
abnormal pituitary gland weight anomaly in the average weight of the compound gland suspended from the base of the hypothalamus
abnormal renal artery morphology any structural anomaly of the pair of major vessels which arise off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supply the kidneys with blood; small branches of the renal artery also supply the suprarenal gland, the ureter and some surrounding tissues
oligohydramnios A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion.
increased neuron number greater than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses
increased mean corpuscular hemoglobin concentration greater than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices
absent ventral tubercle of atlas absence of the conical ventral projection on the arch of the atlas
small scala tympani volume reduction of the division of the spiral canal of the cochlea lying on the basal side of the spiral lamina
abnormal birth weight anomaly in average weight at birth compared to controls
abnormal skin development anomaly in the formation of the membranous protective covering of the body
abnormal tibialis anterior weight anomaly in the weight of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot
dilated heart right atrium the luminal space of the right upper chamber of the heart is increased in volume or area, usually with an increase in contained fluid
perianal ulcer lesion around or near the anus
increased circulating insulin-like growth factor i level increased blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities
abnormal vestibular hair cell physiology anomalies in processes pertinent to the integrated function of the sensory epithelium of the maculae and cristae in the membranous labyrinth of the inner ear
abnormal retinal pigmentation
abnormal habituation anomaly in the process in which there is a progressive decline of behavioral response probability with a repetitive stimulus
abnormal tibialis anterior morphology any structural anomaly of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot
delayed limb development late onset of the induction and/or differentiation of the limbs
absent sperm head absence of the head segment of the sperm cell
abnormal midbrain-hindbrain boundary development anomaly in the formation of the midbrain-hindbrain domain, comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; an organizing center at the boundary patterns the midbrain and hindbrain primordia of the neural plate
vertebral body hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the main cylindrical portion of the vertebra ventral to the vertebral canal
increased b cell number greater than normal number of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity
abnormal circulating glucose level any anomaly in the concentration in the blood of the major monosaccharide of the body
abnormal hair cell mechanoelectric transduction anomalous conversion of mechanical energy into electric(al) energy by sensory cells, such as auditory and vestibular hair cells, required for auditory sensation
common ventricle
decreased bone mass a reduction in the total amount of bone tissue contained in the skeleton
abnormal atrioventricular node morphology any structural anomaly of the small nodular mass of specialized muscle fibers located in the interatrial septum near the opening of the coronary sinus; this node gives rise to the electrical connection between the atria and ventricles and responds to the sinoatrial node
abnormal phrenic nerve morphology any structural anomaly of motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues
social withdrawal reclusive behavior; the tendency to refrain from participating in social situations and to seek isolation
abnormal triploblastic development abnormal development of the three primary germ layers of the embryo
increased enterocyte apoptosis increase in the timing or the number of enterocytes undergoing programmed cell death
abnormal intestine development abnormal formation of the digestive tube passing from the stomach to the anus
abnormal insulin clearance increase or decrease in the rate at which insulin is removed from the blood stream
abnormal female meiosis anomaly in the process of nuclear division that results in ova with one half the normal chromosome number of the original cell
thick sperm flagellum increased thickness of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility
abnormal fructose absorption any anomaly in the ability of the small intestine to absorb fructose into the bloodstream
meiotic nondisjunction during m1 phase abnormal separation of pairs of homologous chromosomes during anaphase of the first meiotic division such that each daughter cell receives one set of paired chromosomes
abnormal circulating calcium level any anomaly in the concentration of calcium in the blood
abnormal depression-related behavior responses to a stressful situation or stimulus, or failure to seek pleasurable stimuli
abnormal ventral tubercle of atlas morphology any structural anomaly of the conical ventral projection on the arch of the atlas
enlarged aortic valve an increase in the total area occupied by the aortic valve
abnormal immature b cell morphology any structural anomaly of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity
absent pericardium absence of the fibroserous membrane covering the heart and beginning of the great vessels
enlarged parathyroid gland increased size of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism
abnormal chromosome stability anomaly in the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an reduced rate of loss of heterozygosity
abnormal urine urea nitrogen level any change in the amount of nitrogen in the form of urea in the urine
abnormal kidney efferent arteriole morphology any structural anomaly of the blood vessels that convey blood from the glomerulocapillary network to the capillary bed of the proximal convoluted tubule
focal hair loss focal absence of hair in areas where hair is normally expected; in rodents, often appearing behind the ears and on the tail, resulting in visible patches of skin and uneven spots of hair growth on the body
abnormal placental labyrinth villi branching morphogenesis any anomaly in the process in which the branches of the fetal placental villi are generated and organized from the trophoblast-derived epithelium
abnormal vascular branching morphogenesis increase, decrease or anomaly in the process by which new vessels sprout off pre-existing vessels
abnormal rib-vertebral column attachment any anomaly in the in the normal joining of the ribs to the vertebral column
decreased pituitary gland weight reduction in the average weight of the compound gland suspended from the base of the hypothalamus
thin epidermis stratum granulosum decreased thickness of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis
decreased somatotroph cell number reduced number of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin
enlarged tectorial membrane increased size of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells
decreased susceptibility to infection reduced likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens
reduced hair shaft melanin granule number the number of pigment polymers in the hair shaft is less than normal
increased growth hormone level greater than the expected concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization
abnormal cerebral cortex pyramidal cell morphology any structural anomaly of the projection neurons in the pyramidal cell layer of the cerebral cortex
abnormal eye movement An abnormality in voluntary or involuntary eye movements or their control.
pericardial effusion A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity.
thymus hyperplasia Enlargement of the thymus.
abnormal b wave implicit time anomaly in the time from the onset of light stimulus to the peak of the b wave
abnormal anus morphology any structural anomaly of the lower opening of the digestive tract
decreased leukotriene level reduced concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells
reticulocytosis An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
abnormal estrus any anomaly or aberrant timing of the phase of the estrous cycle which begins with the ovulation of fully mature oocytes and during which the vulva remains in an extended state with an open vagina, and females are maximally receptive to male advances
small hippocampus reduced size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation
absent vomer bone missing triangular flat bone of the nasal septum
abnormal mitral valve cusp morphology any structural anomaly of the two fibrous components and associated flaps of the mitral valve
abnormal pancreatic islet number anomaly in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas
pulmonary trunk hypoplasia underdevelopment or reduced size of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery, usually due to reduced cell number
decreased susceptibility to induced retinal damage reduced or absent pathological changes in the retina due to chemical or mechanical agents
abnormal autonomic nervous system morphology A structural abnormality of the autonomic nervous system.
increased mitochondrial proliferation increase in the expansion rate of the cellular organelles responsible for energy production by division
abnormal spinal cord lateral column morphology any structural anomaly of the region of white matter of the spinal cord that is located between the dorsal and ventral spinal roots
abnormal inspiratory capacity anomaly in the maximal volume of air that can be inspired after the end of a normal expiration
increased facial tumor incidence greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period
abnormal vestibular hair bundle shaft connectors any structural anomaly in the links that connect the shafts of neighboring stereocilia in vestibular hair bundles; each shaft connector is composed of a ruthenium red-reactive, electron-dense particle that is connected to the plasma membrane by several fine strands of variable length
abnormal anterior eye segment morphology any structural anomaly of any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive)
stomach mucosa hyperplasia overdevelopment or increased size, usually due to an increase in the number of cells, of the mucous layer of the stomach wall which contains the gastric pits and glands, and consists of epithelium, lamina propria, and the muscularis mucosae
abnormal digestion any anomaly of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism
sclera thinning
dilated allantois an expansion in the volume of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels, as by stretching or distention
abnormal circulating total protein level total serum protein concentration is outside the normal range
lethality during fetal growth through weaning death anytime between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age)
decreased t follicular helper cell number reduced number of the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production
slow extinction of fear memory impaired ability or inability to extinguish aversive memories associated with a traumatic incident
pulmonary alveolar edema an effusion of serous fluid into the pulmonary alveoli; usually caused by the movement of blood components through the pulmonary capillary walls as a result of a change in osmotic pressure, an increased permeability of the walls, or related factors
abnormal cerebellar plate morphology any structural anomaly of the embryonic pseudostratified epithelium of the fourth cerebellar ventricle that eventually forms the vermis and ventral neuroepithelium
uterine cervix inflammation
decreased brain internal capsule size reduced size of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord
abnormal pulmonary alveolus epithelial cell morphology any structural anomaly of the cells lining the alveoli
increased curvature of auchene hairs greater bending arch of the auchene hairs
astrocytosis Proliferation of astrocytes in the area of a lesion of the central nervous system.
aorta coarctation
abnormal urine glucose level any change in the amount of glucose in the urine
hyperekplexia
abnormal thoracic cage shape anomaly in the overall regular dome shape of the ribcage
abnormal tumor latency anomaly in the expected time of onset of tumor occurrence
abnormal epithalamus morphology any structural anomaly of the small dorsomedial area of the thalamus including the habenular nuclei and associated fiber bundles, the pineal body, and the epithelial roof of the third ventricle
duodenal ulcer Adding UMLS CUI for Curling Ulcer C0013295.
fusion of glossopharyngeal and vagus nerve union of the ninth and tenth cranial nerves into a single structure
increased circulating thyroid-stimulating hormone level greater amount in the blood of the hormone that stimulates the growth and function of the thyroid gland
abnormal urothelium morphology any structural anomaly of the epithelial lining of the lumen of the organs of the urinary tract
delayed chorioallantoic fusion late onset of the initiation and/or completion of the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois
abnormal keratohyalin granule morphology any structural anomaly of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function
abnormal epidermis stratum granulosum morphology any structural anomaly of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis
abnormal urine organic anion level any change in the amount of organic anions in the urine
maternal effect expression of a phenotypic trait in a female animal's offspring that is dependent on the maternal genotype
fatigue A subjective feeling of tiredness characterized by a lack of energy and motivation.
utricular macular degeneration degeneration or loss of the neuroepithelial sensory receptor in the inferolateral wall of the utricle
abnormal articular cartilage morphology any structural anomaly of the thin layer of smooth hyaline cartilage located on the joint surfaces of a bone
abnormal adrenaline level aberrant concentration in the blood or tissues of this catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels
abnormal choriocapillaris morphology any structural anomaly of the capillaries forming the inner vascular layer of the choroid of the eye
abnormal ultimobranchial body morphology any structural anomaly of the outpocketing of the caudal-most branchial pouch of the embryo (interpreted as a fifth pouch in human or as the ventral component of the fourth pouch in mouse) that fuses with the thyroid diverticulum, ultimately giving rise to calcitonin-producing parafollicular cells (aka C-cells) which function in calcium homeostasis; in most mammals, these parafollicular cells fully disperse with the endodermally derived follicular cells of the thyroid by birth
abnormal defecation anomaly in the discharge of feces from the body
pancreatic acinar hypoplasia underdevelopment or reduced size of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced, usually due to a decreased cell number
small intervertebral disk reduced size of the cartilaginous and gelatinous structure found between vertebrae
azoospermia A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.
short endolymphatic duct length reduction or truncation of the small membranous canal which connects with both saccule and utricle of the membranous labyrinth, passes through the aqueduct of vestibule, and terminates in the endolymphatic sac
cardia bifida failure of the bilateral myocardial cells to coalesce into a single central heart tube resulting in the presence of two independent hearts
decreased circulating aspartate transaminase level less than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction
abnormal liver vasculature morphology any structural anomaly of the blood vessel network of the bile-secreting exocrine gland
uveal coloboma congenital defect of the uvea in which some part of the structure is absent
tau protein deposits formation of self-assembled tangles of paired helical filaments and straight filaments due to hyperphosphorylation of the tau protein; often seen in neuronal tissues of individuals with neurodegenerative disorders
increased susceptibility to induced pancreatitis more likely than normal to develop an inflammatory response, or an increased inflammatory response in the pancreatic tissue after experimental manipulation
impaired granulosa cell differentiation atypical production of or inability to produce the supporting cells for the developing female gamete in the ovary of mammals; granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle
abnormal soleus morphology any structural anomaly of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot
abnormal hair follicle pheomelanosome pheomelanin content anomaly in the amount or distribution of yellow pigment in the hair follicle
interrupted aortic arch, type b Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries.
small embryonic telencephalon reduced size of the paired diverticula of the embryonic telencephalon, from which the forebrain develops
impaired contractility of intestinal smooth muscle inability or reduced ability of intestinal smooth muscle to shorten or to develop increased tension
decreased maxillary shelf size reduced size of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate
abnormal mesocardium morphology any structural anomaly of the layer of splanchnic mesoderm supporting the embryonic heart in the pericardial cavity; mesocardium normally regresses before birth
mouth mucosal ulcer lesions through the mucous membrane of the mouth, usually associated with loss of tissue
abnormal eccrine gland morphology any structural anomaly of any exocrine gland whose secretions are excreted via exocytosis from secretory cells into an epithelial-walled duct or ducts and thence onto a bodily surface or into the lumen; the gland releases its product and no part of the gland is lost or damaged
abnormal liver morphology any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage
absent outer ear absence of the auricles or external acoustic meatus
absent lacrimal glands missing the glands that secrete tears
absent amniotic cavity absence of the closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds
absent brachial lymph nodes absence of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes
skeleton phenotype
abnormal epiglottis morphology any structural anomaly of the most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink
decreased lactotroph cell size reduced growth or small size of an acidophilic cell of the anterior pituitary that produces prolactin
increased skeletal muscle fiber size increase in the size of the large multinucleated cells that make up the skeletal muscles
increased ventricle muscle contractility greater than the normal ability of the heart ventricle muscle to shorten or to develop increased tension, often measured by ventricular ejection fraction volume
increased histiocytic sarcoma incidence greater than the expected number of malignant tumors derived from histiocytes in a given population in a given time period
abnormal heart left ventricle pressure any anomaly in the pressure within the left cardiac ventricle
abnormal optic choroid morphology any structural anomaly of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera
prolonged qrs complex duration increase in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart
abnormal chorion morphology any structural anomaly of the outermost extraembryonic membrane
abnormal perilymph change in the normal production (volume) or ionic homeostasis of the fluid contained within the osseous labyrinth, surrounding and protecting the membranous labyrinth; perilymph resembles extracellular fluid in composition, has a high concentration of sodium ion and a low concentration of potassium ion and, through the perilymphatic duct, is in continuity with cerebrospinal fluid
abnormal placement of pupils
increased susceptibility to induced muscular atrophy greater than expected wasting of muscle tissue after experimental manipulation (starvation, neurectomy, immobilization, etc)
decreased susceptibility to dystrophic cardiac calcinosis less likely to be stricken by dystrophic cardiac calcinosis
ectopia cordis Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall.
abnormal mesonephros morphology any structural anomaly of the excretory organ of the embryo, collective Wolffian tubules, which forms the urogenital fold from which the reproductive organs develop
abnormal prostate gland duct morphology any structural anomaly of the minute canals that pass the prostatic secretions to the urethra
aortic valve regurgitation
abnormal macrophage cytokine production any anomaly in the appearance of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in a change to its intracellular or extracellular levels
absent ureteric bud absence of the epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme
decreased glycerol level reduced level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source
vulva atrophy
increased mesenteric fat pad weight greater than average weight of the encapsulated adipose tissue associated with the mesentery
decreased susceptibility to graft versus host disease less likelihood of developing clinical symptoms of anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the a graft versus host reaction, which is an immunological attack mounted by a graft against the host because of tissue incompatibility when immunologically competent cells are transplanted to an immunologically incompetent host
abnormal organ of corti morphology any structural anomaly associated with the highly specialized epithelium in the floor of the ductus cochlearis; also referred to a spiral organ (organum spirale), or acoustic papilla
increased interleukin-12b secretion increase in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23
decreased skeletal muscle mass reduction in the physical bulk, or total amount of matter contained within skeletal muscle
abnormal interleukin-18 secretion anomaly in the production or release of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity
lysosomal protein accumulation buildup of protein in the lysosome
decreased oligodendrocyte progenitor number fewer cells that differentiate into a type of glial cell in the central nervous system
decreased vascular permeability reduced or slower ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases
decreased circulating cholesterol level
abnormal behavioral withdrawal response anomaly in the intensity, duration, or type of behaviors displayed after discontinuation of an addictive substance
penis prolapse inability to withdraw the penis into the prepuce (the fold of skin covering the glans penis), other than a paraphimosis; not to be confused with phimosis
impaired complement alternative pathway abnormal function of the plasma protein cascade triggered by direct contact with pathogen surfaces
decreased circulating corticosterone level less than the normal blood amount of an adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion
abnormal peritoneum morphology any structural anomaly of the serous sac, consisting of mesothelium and a thin external layer of irregular connective tissue, that lines the abdominopelvic cavity and covers most of the viscera contained therein; it forms two sacs: the peritoneal (or greater) sac and the omental bursa (lesser sac) connected by the omental foramen
abnormal splenic cell ratio deviation from the standard ratios of splenocyte subpopulations compared to control samples
decreased grip strength reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire
abnormal gamma-delta t cell number anomaly in the number of immature or mature T cells expressing an gamma-delta T cell receptor complex
abnormal sertoli cell development anomalous differentiation of cells that support germ cell differentiation in males
abnormal corticospinal tract morphology any structural anomaly of the corticospinal fibers that arise from the pyramidal cells within the cerebral cortex layer V of the precentral motor area, the premotor area and the postcentral gyrus, then descend into and through the medulla to form the lateral corticospinal tract and the anterior corticospinal tract
abnormal hair cycle aberrant timing of growth and regression of the hair follicles
short oviduct length reduction or truncation of the tube through which the ova pass from the ovary to the uterus
vestibular ganglion hypoplasia underdevelopment or reduced size, usually due to a reduced number of cell bodies, in the group of bipolar sensory nerve cell bodies concerned with equilibration that form a swelling on the vestibular part of the eighth cranial nerve in the fundus of the internal acoustic meatus
abnormal bone ossification Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
decreased circulating interleukin-1 alpha level reduction in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active
failure of ventral body wall closure failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the head and tail folds that cause the embryo to curve into the fetal position and is complete except in the region of the connecting stalk (future umbilical cord); if closure fails, ventral body wall defects occur in the thorax, abdomen, and pelvis and involve the heart (ectopia cordis), abdominal viscera (gastroschisis), and/or urogenital organs (bladder or cloacal exstrophy), depending upon the location and size of the abnormality
abnormal cd8-positive, alpha-beta memory t cell number an anomaly in the number of CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive; this cell type is also described as being CD25-negative, CD44-high, and CD122-high
abnormal trabecula carnea morphology any structural anomaly of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart
decreased nerve fiber response intensity reduction in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single or several nerve fiber(s)
abnormal masticatory muscle morphology any structural anomaly of any of the muscles responsible for the movement of the jaws during mastication, including the masseter, temporal, and medial and lateral pterygoid muscles
delaminated purkinje cell layer splitting or disorganization of the layer of large neuron cell bodies between the molecular and granular layers of the cerebellum
abnormal cerebellar granule cell migration any anomaly in the movement of cerebellar granule cell neurons from the germinal zone into the granule cell layer of the cerebellum along radial glia fibers during development of the cerebellar cortex
dilated pulmonary alveolar ducts expansion or widening of the lumens of the respiratory conducting tubes distal to the respiratory bronchiole that lead to the alveolar sacs and the alveoli
vestibular saccular macula degeneration degeneration or loss of the oval neuroepithelial sensory receptor in the anterior wall of the saccule
decreased diameter of ulna reduced width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge
crypts of lieberkuhn abscesses an exudate collection associated with inflammation in the crypts of Lieberkuhn of the intestinal mucosa; often associated with ulcerative colitis
abnormal t-helper 17 cell differentiation atypical production of or inability to produce the CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17
lipofuscinosis accumulation of intracellular autofluorescent material, in the form of brownish fatty pigment, in lysosomes as a normal part of senescence or aging
small liver reduced size of the liver
short presphenoid bone reduced length of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult
abnormal mammary gland duct morphology any structural anomaly of the canals that lead from the lobes of the mammary gland to the tip of the nipple and are responsible for carrying milk toward the nipple in a lactating female
abnormal spongiotrophoblast layer morphology any structural anomaly of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors
abnormal dermatome morphology any structural anomaly in the mesoderm that is derived from the somite that is fated to become the dermis
abnormal olfactory nerve morphology any structural anomaly of the first cranial nerve, which conveys the sense of smell
small supraoccipital bone reduced size of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young
increased anti-insulin autoantibody level elevated level of antibodies to insulin present in the sera
failure of vascular branching failure of vasculature to form divisions (offshoots)
abnormal plasmacytoid dendritic cell morphology any structural anomaly of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli; plasmacytoid dendritic cells are found in the thymic medulla and lymph node T cell areas and are responsible for immune tolerance
abnormal subthalamic nucleus morphology any structural anomaly of the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function
abnormal channel response threshold any change in the value at which a stimulus first elicits a recordable response recorded from ion channels
absent cochlear hair cells absence of the sensory epithelial cells of the cochlea; these cells are normally in synaptic contact with the auditory nerve
impaired conditioned place preference behavior decrease in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment
hypoplastic trabecular meshwork reduced size of the pore-like structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates
dilated seminal vesicles an expansion in the lumen volume of either of the paired sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system, as by stretching or distention
increased circulating chloride level
dystrophic cardiac calcinosis a condition characterized by the localized deposition of calcium salts in the heart; often occurring in association with inflammation or atherosclerotic lesions and other pathological states
abnormal embryonic hematopoiesis anomaly in the development of primarily large, nucleated erythroblasts as well as some megakaryocytes and primitive macrophages that circulate in the embryonic and extraembryonic tissues, and which occurs in blood islands in the yolk sac from E7-E11 in the mouse and through 10 weeks in humans
increased ovarian teratoma incidence
muscular atrophy
decreased clara cell number reduced number of the rounded, club-shaped, nonciliated cells found between ciliated cells in bronchiolar epithelium
increased curvature of zigzag hairs greater bending arch of the zigzag hairs
abnormal conjunctival epithelium morphology any structural anomaly of the conjunctival layer of epithelial cells covering inner surface of the eyelid and the front of the eyeball except over the cornea
abnormal pq interval anomaly in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave
abnormal heart rate greater than or fewer than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute
increased b cell derived lymphoma incidence higher than normal incidence of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes
abnormal cochlear hair cell physiology any functional anomaly in processes pertinent to the integrated function of cochlear hair cells i.e. the sensory cells in the spiral organ which are in synaptic contact with sensory as well as efferent fibers of the cochlear (auditory) nerve
abnormal peripheral lymph node morphology any structural anomaly of the lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes
abnormal mismatch repair any functional anomaly in the system that promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination
abnormal hindbrain morphology any structural anomaly of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived; the metencephalon (anterior part of the embryonic hindbrain), gives rise to the cerebellum and pons while the myelencephalon (posterior portion of the embryonic hindbrain) gives rise to the medulla oblongata
abnormal cochlear potential anomaly in the evoked response of the cochlea
abnormal hair follicle melanocyte morphology any structural anomaly of the cells that produce pigment in the hair follicles
impaired wound healing reduced ability or inability to self-repair and close wounds
abnormal foot plate morphology any structural anomaly of the distal elements of the developing limb of vertebrates that will give rise to the pedal appendages (e.g. hand, foot, paw)
abnormal immune system cell morphology any structural anomaly of immune cells
heart hemorrhage bleeding into the heart
abnormal macrophage apoptosis excessive or absent cell death in macrophages
abnormal vertebral arch development anomalous formation of the posterior projection from the body of a vertebra that encloses the vertebral foramen
venoocclusion blockage of blood flow through one or more veins
small vertebral body decreased size of the main cylindrical portion of the vertebra ventral to the vertebral canal
abnormal circulating serum albumin level
abnormal locomotor behavior altered ability or inability to move from place to place in response to stimuli
ureteropelvic junction atresia congenital absence or closure of the connection between the ureter and the renal pelvis
pancreas atrophy acquired size diminution of any portion of the pancreas, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
abnormal tooth color anomaly in the color and shading of the teeth, which normally present in shades of white
artery stenosis
increased interleukin-12 secretion increase in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells
increased fetal weight increase in the weight of a fetus compared to controls (sensu Mus: from E14 through birth)
abnormal retinal nerve fiber layer morphology any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve
increased lymphocyte chemotaxis any anomaly in the directed movement of a lymphocyte in response to an external stimulus
partial lethality during fetal growth through weaning the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age)
abnormal nucleotide metabolism any anomaly in the chemical reactions and pathways involving a nucleotide, including metabolic, catabolic and biosynthetic processes
abnormal small intestinal villus morphology any structural anomaly of the tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold
increased aggression toward humans when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward humans
decreased cd8-positive, gamma-delta intraepithelial t cell number reduced number of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements
small malleus processus brevis reduced size of the projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane
abnormal ebner's gland morphology any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete lingual lipase initiating the process of lipid hydrolysis in the mouth and empty their serous secretion into the base of the moats around the foliate and circumvallate papillae; their secretion presumably flushes material from the moat to enable the taste buds to respond rapidly to changing stimuli.
acephaly congenital absence of the head
abnormal marginal zone b cell physiology abnormal function of a CD23-negative, CD21-positive B cell of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL
abnormal spatial working memory anomaly in the ability to spontaneously process spatial location information in order to navigate or perform other behavior using such location cues, without previous encounters or training at that location
abnormal stria vascularis morphology any structural anomaly in the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph; stria vascularis normally consists of marginal, intermediate, and basal cells: basal and marginal cell tight junctions preclude paracellular diffusion into and out of the intrastrial space while basal and intermediate cells secrete into this space potassium ions derived from fibrocytes through gap junctions
abnormal circulating creatine level anomaly in the amount per unit of blood of an amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized
abnormal glossopharyngeal ganglion morphology any structural anomaly of the two groups of sensory neuron cell bodies associated with the ninth cranial nerve
abnormal wolffian duct morphology any structural anomaly of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male
absent sixth pharyngeal arch absence of the structure of the sixth arch which contributes to the development of the sternocleidomastoid and trapezius muscles
abnormal hair shaft melanin granule morphology any structural anomaly of pigment polymers in the hair shaft
broad nasal bone increased width of either of two rectangular bone plates forming the bridge of the nose
hypotension Blood pressure that is abnormally low.
abnormal excitatory postsynaptic current amplitude anomaly in the size (height or maximum displacement) or shape of the evoked excitatory postsynaptic current wave
abnormal urogenital fold morphology any structural anomaly of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora
abnormal spermiation anomaly in the process by which mature spermatozoa release from supporting Sertoli cells into the lumen of seminiferous tubules
abnormal renal glomerular filtration anomaly in the process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells
abnormal neuronal precursor proliferation any anomaly in the ability of a neuroblast population to undergo rapid expansion by cell division
abnormal parasympathetic nervous system physiology any functional anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and generally acts to conserve resources and restore homeostasis, often with effects reciprocal to the sympathetic nervous system
aerophagia excessive swallowing of air or gas
increased circulating iron level elevation in the concentration of iron in the blood
abnormal inner cell mass morphology any structural anomaly of the cells of the blastocyst that develop into the body of the embryo and some extraembryonic tissues
absent meibomian glands missing meibomian glands
increased leiomyoma incidence greater than the expected number of a benign tumor derived from smooth (nonstriated) muscle, occurring in a specific population in a given time period
abnormal terminal bronchiole morphology any structural anomaly of the last conducting structure of non-respiratory bronchioles; after this point, the airways have alveoli in their walls
decreased hormone-sensitive lipase activity reduced ability to catalyze the reactions: diacylglycerol + H2O = monoacylglycerol + a carboxylate; triacylglycerol + H2O = diacylglycerol + a carboxylate; and monoacylglycerol + H2O = glycerol + a carboxylate
utricular degeneration degeneration or loss of the larger of the two sacs in the vestibule
abnormal mating receptivity deviation from the normal cycle or inability of females to respond favorably to males that initiate sexual behavior
abnormal left lung morphology any structural anomaly of the organ of respiration located on the left side of the body
abnormal atrioventricular bundle morphology any structural anomaly of the specialized cardiac muscle fibers that originates in the atrioventricular node and extends into the ventricle
abnormal vagina morphology any structural anomaly of the part of the genital canal in the female that extends between the cervix of the uterus and the vestibule; it is an organ of copulation that receives the penis during sexual intercourse
abnormal pulmonary ventilation anomaly of the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment
abnormal lymphocyte anergy anomaly in the process of establishing a state of functional inactivation of self-reactive lymphocytes
abnormal nerve fiber response intensity any change in the value for changes in the degree of de- or hyperpolarization or number of action potentials in response to a specific stimulus recorded in a single or several nerve fiber(s)
abnormal hepatic vein morphology any structural anomaly of the veins that drain blood from the liver and terminate in three large openings to the inferior vena cava below the diaphragm and into smaller openings in more inferior positions
prostate gland epithelial hyperplasia epithelium is multi-layered instead of columnar and has increased cell number
increased adrenocorticotropin level increased concentration of adrenocorticotropic hormone
peliosis presence of multiple cyst-like blood-filled lakes or cavities that lack endothelial linings within parenchymatous organs, typically found in the liver, spleen, bone marrow and lymph nodes; also described in other organs such as lungs, kidneys, parathyroids and pancreas
arrest of male meiosis cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell
mesangial cell interposition spreading of mesangial cells into the contiguous space between the adjacent glomerular endothelial cells and the glomerular basement membrane (GBM)
abnormal endocardial heart tube morphology any structural anomaly of the paired, longitudinal, endothelial-lined channels formed from the cardiogenic mesoderm in embryonic development; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube
abnormal perichondrium morphology any structural anomaly of the fibrous connective tissue that surrounds all non-joint end cartilage
increased circulating interferon-gamma level increase in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation
small cerebellum reduced size of cerebellum
absent first pharyngeal arch absence of the structure of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel's cartilage, trigeminal nerve, and maxillary artery
clitoris hypoplasia
neonatal lethality
hyperactivity elicited by feed restriction increased activity after restriction of food
parietal capsular epithelium metaplasia a metaplastic change or transformation of the single layer of the parietal epithelium of Bowman's capsule from the normal structural appearance of simple squamous epithelium to a cuboidal or low columnar epithelium; also referred to as a prominent parietal epithelium
decreased circulating follicle stimulating hormone level less than expected blood concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis
abnormal ornithine carbamoyltransferase activity anomaly in the ability to catalyze the reaction: carbamoyl phosphate + L-ornithine = phosphate + L-citrulline
larynx stenosis
no spontaneous movement failure of neonates or embryos to initiate any voluntary or spontaneous change in position or posture, with or without external stimulus
abnormal common cardinal vein morphology any structural anomaly of the anastomosis of the anterior and posterior cardinal veins that returns blood to the developing heart
abnormal adipocyte glucose uptake anomaly in the ability of adipocytes to take in glucose
abnormal erythrocyte physiology aberrant measurable or observable characteristic related to the function of or processes in the cells in the blood that carry oxygen, red blood cells
dacryocytosis presence of teardrop-shaped red blood cells
placental labyrinth hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the placental labyrinth, the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood
notochord degeneration retrogressive pathologic change of the axial fibrocellular cord in embryos around which develops the vertebral primordia (prior to normal differentiation of this tissue into the vertebral column tissues)
insensitivity to growth hormone no growth response to exogenous growth hormone
abnormal allantois morphology any structural anomaly fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels
increased interleukin-18 secretion increase in the production or release of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity
abnormal submandibular ganglion morphology any structural anomaly of the ganglion associated with the lingual nerve that provides postsynaptic fibers to the submandibular and sublingual glands
increased circulating interleukin-5 level increase in the amount in the blood of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells
increased guard hair length increase in the length of the long, straight truncal hairs that contain two air cells in the medulla
dilated ureter abnormal distention of the ureter due to accumulation of fluid
abnormal impulse conducting system morphology any structural anomaly in the impulse-conducting system composed of modified cardiac muscle and having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart
absent ultimobranchial body absence of the outpocketing of the caudal-most branchial pouch of the embryo (interpreted as a fifth pouch in human or as the ventral component of the fourth pouch in mouse) that fuses with the thyroid diverticulum, ultimately giving rise to calcitonin-producing parafollicular cells (aka C-cells) which function in calcium homeostasis; in most mammals, these parafollicular cells fully disperse with the endodermally derived follicular cells of the thyroid by birth
decreased susceptibility to type iii hypersensitivity reaction less likelihood of or resistance to developing tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via Abs encountering circulating Ag; Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury
corneal-lenticular stalk persistent central adhesion between the lens and the cornea
abnormal pinna hair pigmentation amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is decreased or increased in hair located behind the ears when compared to control animal pigmentation
pharyngeal arch hypoplasia underdevelopment or reduced size of the transient structures of the embryo that develop into regions of the head, neck and ears, usually due to reduced cell number
abnormal cranial flexure morphology any structural anomaly or absence of the sharp, ventrally concave bend in the developing midbrain of the embryo
decreased circulating creatinine level less than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction
abnormal porphyrin level aberrant concentration of porphyrins or protoporphyrins
irregular heartbeat Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
impaired smooth muscle contractility inability or reduced ability of the smooth muscle to shorten or to develop increased tension
abnormal mating preference any change from the common preference of an initiating organism to initiate sexual contact with a receptive partner; in rodents, this usually refers to males that attempts to initiate sexual behavior with males and females indiscriminately
abnormal enamel rod pattern any anomaly in the orientation of the structural unit of tooth enamel
abnormal prepulse inhibition anomaly in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus
abnormal stapes morphology any structural anomaly of the smallest and innermost of the three auditory ossicles
supravalvar aortic stenosis a narrowing, diffuse constriction or obstruction of the ascending aorta located just distal to the aortic valve at the aortic root
increased embryo weight increase in the weight of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis)
small heart reduced size of the heart relative to average
abnormal primary muscle spindle morphology any structural anomaly of the sensory organ in muscle; involved in the stretch reflex and sensitive to stretch velocity
small prostate gland dorsolateral lobe reduced size of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle
abnormal harderian gland morphology any structural anomaly of the retroocular sebaceous gland found within the orbit of mammals that possess a nictitating membrane (third eyelid); the chief products of the gland vary between different groups of vertebrates, and epithelial cells possess granules or vacuoles whose contents may be mucous, serous or lipid; in rodents, the Harderian gland is especially large and secretes lipids (by a merocrine mechanism), melatonin and porphyrins; ascribed functions include a role in lubrication and protection for the eyeball and nictitating membrane (by lipids), photoprotection (by porphyrin), photoreception (by regulation of the incidence of light on the retina), and thermoregulation (in some rodents) of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane
abnormal scaphoid morphology any structural anomaly of the bone of the hand located at the radial side of the carpus and which articulates with the radius, trapezium, trapezoideum, capitate, and lunate bones
long tail increased length of tail relative to average of a given reference population
abnormal platelet calcium level anomaly in the amount in the platelet of calcium
abnormal tail tip morphology any structural anomaly of the distal end of the tail
abnormal activation-induced b cell apoptosis any anomaly in the process in which B cell apoptosis occurs upon engagement of either the B cell receptor or CD40, but not both; the engagement leads to expression of fas or related receptors that make the B cell susceptible to fas-ligand mediated death
dilated esophagus an expansion in the lumen volume of the part of the digestive canal through which food passes from the pharynx to the stomach
neck telangiectases vascular lesion formed by dilation of a group of small blood vessels in the neck
abnormal major salivary gland morphology any structural anomaly of the three largest glands of the oral cavity that secrete most of the saliva, including the parotid, submandibular, and sublingual glands
abnormal coronary artery morphology any structural anomaly of any of the arteries that branch from the ascending aorta to supply blood to the heart
decreased pancreatic epsilon cell number reduction in the number of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin
abnormal primitive endoderm morphology any structural anomaly of the transient thin monolayer of cuboidal cells that comprise the lower layer of the bilaminar embryonic disk; the hypoblast cells contribute to several extraembryonic structures, but do not contribute to the embryo
abnormal brain morphology any structural anomaly of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)
decreased alveolar lamellar body number reduced number of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant
kidney microaneurysm focal dilation of arteriocapillary junctions in the kidney
abnormal cardiac cell glucose uptake anomalous ability of the cells of the heart to take in glucose
abnormal metanephric mesenchyme morphology any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing metanephros; interactions between the ureteric bud and the metanephric mesenchyme leads to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue
abnormal nephron number anomaly in the total number of the filtering units of the kidney; nephron number can be used as an index of the efficiency of ureteric branching and nephrogenesis
abnormal lipolysis anomaly in the process of the hydrolysis of fat into free fatty acids
abnormal striatum morphology any structural anomaly of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking
short ribs Reduced rib length.
increased interferon-beta secretion increase in the production or release of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity
abnormal mammary gland embryonic development aberration in the differentiation of the mammary gland during early embryogenesis
increased superior colliculus size enlargement of the paired superior eminence of the mesencephalic tectum
abnormal retinal rod cell inner segment morphology any structural anomaly of the retinal rod cell region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region
small uterine cervix reduced size of the lower opening of the uterus to the vagina
increased susceptibility to autoimmune hemolytic anemia greater likelihood that an organism will develop an abnormality of the immune system that destroys red blood cells (hemolysis) prematurely
increased satellite cell number greater number of unfused cells in muscle that play a role in muscle regeneration
thick hippocampus stratum radiatum
increased chronic myelocytic leukemia incidence
abnormal pancreatic alpha cell differentiation atypical production of or inability to produce the cells of the pancreas that secrete glucagon, and/or accumulation of pancreatic alpha cell precursors
abnormal megakaryocyte morphology any structural anomaly of a giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm
dilated heart stretched or widened aperture of the luminal spaces of the heart, usually with an increase in contained fluid
abnormal midbrain morphology any structural anomaly associated with the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes
abnormal cerebrum morphology any structural anomaly of the largest part of the brain, derived from the telencephalon, and is composed of a right and a left hemisphere each which contains an outer cerebral cortex and a subcortical basal ganglia; cerebral functions include sensorimotor, emotional, and intellectual activities
decreased catalase activity reduced ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O
decreased circulating thyroxine level reduction in the normal blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism
ostium secundum atrial septal defect A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.
abnormal kidney inner medulla morphology any structural anomaly of the inner medullary region of the adult kidney containing collecting ducts and the long loops of Henle
narrow salivary ducts reduced diameter of the tubular canals that carry saliva
abnormal ileum morphology any structural anomaly of the portion of the small intestine that extends from the jejunum to the colon
patent aortic valve the aortic valve remains open during the cardiac cycle
absent peyer's patches lymphoid tissue missing from the mucosa of the small intestine
abnormal ovarian follicle number abnormal numbers of spheroid cell aggregations in the ovary
esophageal epithelium hyperplasia overdevelopment or increased size, usually due an increased number of cells in the epithelial layer lining the luminal space of the esophagus
abnormal atrioventricular valve morphology any structural anomaly of the valves that gate the flow of blood from the atria into the ventricles
abnormal circulating testosterone level anomaly in the blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females
abnormal imprinting defects in the establishment of heritable alterations in the activity of a gene that depend on whether it passed through the paternal or the maternal germline, but that are not encoded by DNA itself
ureteropelvic junction stenosis a constriction or narrowing of the junction between the ureter and the renal pelvis
polycythemia Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume.
abnormal pterygoid process morphology any structural anomaly of the process projecting downward from either side of the sphenoid bone, in vertebrates divided into two plates, an inner and an outer (sometimes called the lateral and medial); the posterior nares pass through the space, called the pterygoid fossa, between the processes
ovary hypoplasia
abnormal kindling response any anomaly in the long-lasting epileptogenic changes normally induced by daily sub threshold electrical brain stimulation, often used as an induced model for epilepsy
abnormal single cell response altered values from controls obtained upon extra- or intracellular recordings from single cells
abnormal renal vein morphology any structural anomaly of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava
decreased ear pigmentation visually detectable dilution of pigment present in the outer ear
increased salivation
abnormal r wave any anomaly in the R wave which represents ventricular depolarization and corresponds to electrical impulses rather than mechanical ventricular contractions; irregular or multiple R waves may indicate arrhythmia and the shape of the R waves may indicate ventricular problems
abnormal osteoid morphology any structural anomaly of newly formed organic bone matrix secreted by osteoblasts, that exists prior to calcification; it is comprised mainly of type I collagen fibers, chondroitin sulfate and osteocalcin
delayed neural tube closure delay in the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline
absent pancreatic islets absence of the clusters of hormone-producing cells that are scattered throughout the pancreas
decreased susceptibility to type iv hypersensitivity reaction less likelihood of or resistance to developing an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact
absent gamma-delta intraepithelial t cell absence of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements
abnormal circulating carnitine level aberrant concentration in the blood of carnitine, a quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane
abnormal embryonic neuroepithelium morphology any structural anomaly of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells
accessory spleen An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.
abnormal facial morphology any structural anomaly of the face
absent inferior colliculus absence of the paired inferior eminence of the mesencephalic tectum
large anterior fontanelle Enlargement of the anterior fontanelle with respect to age-dependent norms.
skeletal muscle degeneration pathological deterioration of skeletal muscle tissue, often accompanied by loss of function
absent golgi tendon organ missing sensory organ in muscle that is involved in regulating muscle tension
granulomatous inflammation chronic inflammation resulting from the failure of the acute inflammatory response and persistence of the injurious agent; characterized by a central area of macrophages, often fused into giant cells, and surrounded by T cells
absent fetal ductus arteriosus absence of the fetal vessel that connects the left pulmonary artery with the descending aorta
abnormal lung size anomaly in the size of the lung compared to controls
increased ectoderm apoptosis increase in the number of ectoderm cells undergoing programmed cell death during development
abnormal gamma-delta t cell morphology any structural anomaly of an immature or mature T cell expressing an gamma-delta T cell receptor complex
fusion of middle ear ossicles Bony fusion of malleus, incus, and stapes.
abnormal pro-b cell differentiation atypical production of or inability to produce the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs
abnormal thermosensation defect in the ability to sense or display a preference for a given temperature
abnormal involution of the mammary gland anomaly in the process during which mammary glands suspend milk protein production, the mammary alveolar structures collapse and secretory epithelial cells are lost
abnormal otolith morphology any structural anomaly of the crystalline particles composed of calcium carbonate and a protein which adhere to the gelatinous membrane of the maculae of the utricle and saccule (otolithic membrane)
pharyngeal arch artery stenosis diffuse constriction or narrowing of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels
abnormal navicular morphology any structural anomaly of the oval-shaped tarsal bone found between the talus and the 3 cuneiform bones
abnormal vibrissa morphology any structural anomaly of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors
bile duct proliferation Proliferative changes of the bile ducts.
decreased ductal branching in the palatine gland fewer branches and distal tips of the vesicles of the palatine gland
increased erythroblast number greater number of the nucleated precursor of erythrocytes
increased circulating progesterone level increased blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy
abnormal lung-associated mesenchyme development abnormality in the formation of the lung tissue comprised of multiple cell types (including connective tissue, endothelial cells, lymphatics, smooth muscle cells surrounding airways and blood vessels, myofibroblasts involved in septum formation, and cartilage-forming cells in the trachea), with most cells thought to be derived from the splanchnic mesenchyme, and other cells (endothelial, smooth muscle) believed to invade the lung as it expands; lung mesenchyme is a critical determinant of the shape and size of the developing lung, the extent and patterning of epithelial branching, and the formation of the pulmonary vasculature and interstitial mesenchymal components of the adult lung
decreased width of hypertrophic chondrocyte zone decreased width of cartilage cell matrix layer
abnormal respiratory mechanics anomaly in the action of the lungs, diaphragm, ribs and chest wall during respiration
increased systemic arterial systolic blood pressure abnormal increase in the pressure in the arteries as the heart contracts and pumps blood into the arteries
abnormal type iii hypersensitivity reaction anomaly in the tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via Abs encountering circulating Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury
ectopic pancreatic acinar cells abnormal position of one or more of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes
hematuria The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
abnormal skeletal muscle satellite cell proliferation anomaly in the ability of unfused cells in skeltal muscle to undergo expansion by cell division, usually triggered by injury or disease
renal glomerulus fibrosis formation of fibrous tissue in the renal glomerulus as a result of repair or a reactive process
skin photosensitivity An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
decreased litter size fewer live born pups in a litter compared to average
increased circulating follicle stimulating hormone level higher than normal levels in the blood stream of FSH, the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis
abnormal eosinophil cell number deviation from the normal numbers of eosinophils
abnormal pilomotor reflex anomaly in the involuntary bristling of hairs that occurs when an organism is cold or experiences strong emotions such as fear or awe
increased circulating magnesium level
abnormal inguinal canal morphology any structural anomaly of the passage in the lower abdominal wall through which the spermatic cord in the male or the round ligament in the female, nerves and vessels pass from the pelvic cavity to the scrotum or labia majora, respectively
decreased rhombomere 3 size reduced size of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order
abnormal body temperature homeostasis any anomaly in the process in which an organism modulates or maintains its internal body temperature
increased skeletal muscle size greater than average dimensions of one or more of the muscles of the skeleton
liver cirrhosis
absent lung saccules absence of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth
abnormal oxygen consumption deviation from the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body
type iv spiral ligament fibrocyte degeneration degeneration or loss of type IV spiral ligament fibrocytes found in the triangular space inferior to the basilar crest
increased spleen iron level increase in the amount of iron present in the spleen tissue
absent vertebral transverse processes loss of the bony protrusions on either side of the arch of a vertebrae at the point where the lamina joins the pedicle, between the superior and inferior articular processes; muscles and ligaments attach to these processes
abnormal rathke's pouch apoptosis any change in the timing or number of Rathke's pouch cells undergoing programmed cell death
impaired olfaction
decreased circulating transferrin level reduced concentration in the blood of a plasma protein that reversibly binds and transports iron and other metal ions through the blood to the liver, spleen and bone marrow
thin ventricular wall decreased depth of the cardiac wall of the heart ventricles
increased tumor incidence greater than the expected number of neoplasms in a specific population in a given time period, usually of a specific type
abnormal parasympathetic neuron morphology any structural anomaly of the neurons of the autonomic nervous system that are responsible for innervation of smooth muscle, cardiac muscle and glands
abnormal mammary fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the mammary gland
exocrine pancreas hypoplasia underdevelopment or reduced size of the portion of the pancreas that secretes digestive enzymes, usually due to a decreased cell number
abnormal male meiosis anomaly in the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell
abnormal mitral valve morphology any structural anomaly of the valve between the left atrium and the left ventricle of the heart, and contains two cusps, the anterior cusp and the posterior cusp, attached to the outer fibrous ring (annulus)
abnormal behavioral response to alcohol any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
abnormal blood-cerebrospinal fluid barrier function anomaly in the function of the group of barriers and transport systems in the choroid plexus located in the lateral, third, and fourth brain ventricles that controls the entrance of substances into the cerebrospinal fluid from the blood
normal phenotype
decreased susceptibility to experimental autoimmune encephalomyelitis reduced likelihood that an organism will develop disease symptoms similar to human multiple sclerosis upon induction with antigens to Myelin Basic Protein (MBP), Proteolipid Protein (PLP), and/or Myelin Oligodendrocyte glycoprotein (MOG)
abnormal pns synaptic transmission An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.
abnormal nephrogenic mesenchyme morphogenesis any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing nephron
abnormal metencephalon morphology any structural anomaly of the anterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the cerebellum and the pons Varolii
absent active-zone-anchored inner hair cell synaptic ribbon absence or loss of the usually single synaptic ribbon, a characteristic osmiophilic, electron-dense structure to which synaptic vesicles are tethered at the active zone of the cochlear inner hair cell afferent synapse
anemia A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.
increased prostate gland adenocarcinoma incidence
increased urine corticosterone level an increased amount of corticosterone in the urine compared to the normal state
abnormal optic eminence morphology any structural anomaly of the embryonic structure that gives rise to the corneal ectoderm
abnormal sympathetic neuron physiology any functional anomaly of any of the neurons of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations
abnormal palatine bone horizontal plate morphology any structural anomaly of the bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate
decreased circulating vldl cholesterol level reduced amount in the blood of the lipoprotein:cholesterol complex that transports triglycerides from the intestine and liver to muscle and adipose tissue
absent nephrogenic zone absence of the region found at the periphery of the developing metanephros within which the metanephric mesenchyme aggregates around the tips of the ureteric tree to form the nephrons;in rodents including mice, this region normally persists for a few days postnatally, although it is lost in humans by 36 weeks of gestation
increased brain size larger than the normal physical proportions of the brain
absent lymphatic vessels absence of the network of vessels which carries lymph around the body
decreased tumor incidence less than the expected number of neoplasms in a specific population in a given time period
increased b-1a cell number greater number of the B-1 B cell subset bearing the CD5 surface marker
absent trigeminal nerve connections to hindbrain missing axonal connection from the trigeminal ganglion to the pons and medulla oblongata
straub tail condition in which an animal carries its tail in an erect (vertical or nearly vertical) position; often seen upon opioid and other drug treatment
decreased creatine level reduction in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized
decreased qrs amplitude reduction in the size (height or maximum displacement) of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction, suggesting ventricular excitation defects
increased small lymphocytic lymphoma incidence higher than normal incidence of lymphocytic leukemia where the lymphocytes are not increased in the peripheral blood, but lymph nodes are enlarged and other lymphoid tissue or bone marrow is infiltrated by small lymphocytes
syndactyly A synostosis that results_in the fusion of two or more digits.
abnormal fetal liver hematopoietic progenitor cell morphology any structural anomaly of a hematopoietic stem cell that resides in the fetal liver
decreased cellular sensitivity to x-ray irradiation decreased incidence of cell death following exposure to X-ray irradiation
decreased renal glomerulus number reduced number of the capillary loops of the kidney that normally function as a filtration unit
decreased anterior vermis size smaller appearance of the narrow middle zone between the two hemispheres of the anterior lobe of the cerebellum
abnormal choroid pigmentation anomalous coloring of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera
abnormal kidney epithelial cell primary cilium morphology any structural anomaly of the single non-motile cilium of a kidney epithelial cell that projects into the luminal space of the tubules and ducts where it is thought to act as a flow sensor
decreased hematopoietic cell number fewer than expected number of cells of the hematopoietic lineage
decreased dendritic cell number reduction in the number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation
abnormal spinal cord lateral motor column morphology any structural anomaly of the subclasses of motor neurons which innervate muscles in the limb; motor neurons in the lateral motor column are further organized into pools, each of which innervates a specific muscle in the limb
abnormal occipital bone morphology any structural anomaly of the bone at the lower, posterior part of the skull
decreased diameter of humerus reduced width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge
jaundice Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
abnormal urinary bladder blood vessel morphology any structural anomaly of the network of tubes that carries blood through the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys
increased creatinine clearance increased rate of the process in which creatine is removed from the blood via renal filtration and its constituent parts degraded
ureter hypoplasia underdevelopment or reduced size of the ureter, usually due to a reduced number of cells
abnormal sternum ossification anomaly in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone
short snout
increased spleen germinal center number greater number of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs
altered susceptibility to fungal infection a change in the likelihood that an organism will develop ill effects from a fungal infection or from components of or toxins produced by a fungi
abnormal first pharyngeal arch artery morphology any structural anomaly of the vessels formed within the first pair of branchial arches in embryogenesis
distended ileum an expansion in the volume of the portion of the small intestine that extends from the jejunum to the colon, as by stretching or distention
abnormal nuclear lamina morphology any structural anomaly of the inner nuclear membrane surrounding the nuclear periphery, comprising a scaffold-like network of protein filaments responsible for trafficking of mRNA to the cytoplasm
absent placenta absence of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin
diencephalon hyperplasia overdevelopment or increased size, usually due an increased number of cells in the rostral portion of the brain stem
absent pulmonary trunk absence of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery
abnormal circadian rhythm deviation from the normal 24 hour biological activity cycle
abnormal stomach muscularis externa morphology any structural anomaly of the smooth muscle layer of the stomach wall that functions to churn and mix food and gastric secretions as well as to move food along the digestive tract to the intestines
abnormal cortical marginal zone morphology any structural anomaly of the developing superficial cortical layer located just under the pia matter
bronchial situs inversus anomaly in the asymmetry of the bronchi of the lung such that these structures on both the left and right side have the morphology normally seen on the opposite side of the body
abnormal iris morphology any structural anomaly of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye
abnormal enzyme/ coenzyme level altered level of any enzyme or their cofactors, that act as catalysts to induce chemical changes in other substances
increased muscle spindle number greater number of the sensory organs in muscle that are involved in the stretch reflex
thalamus hyperplasia overdevelopment or increased size, usually due an increased number of cells in the thalamus
abnormal leukocyte migration altered ability of blood leukocytes to move within or between different tissues and organs of the body by binding to high endothelial venules (HEV), then tethering and rolling along the luminal aspects of HEV
abnormal pterygopalatine ganglion morphology any structural anomaly of the small parasympathetic ganglion that supplies nerve fibers to the lacrimal, nasal, palatine and pharyngeal glands
impaired hearing reduced ability to perceive auditory stimuli
abnormal eye size deviation from the average range of eye size for a given organism
absent amniotic folds failure of the amnion to form involutions
abnormal nociception after inflammation changes in pain thresholds after inflammation
abnormal lumbar vertebrae morphology any structural anomaly of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae
abnormal peyer's patch follicle morphology any structural anomaly of the area of the Peyer's patch normally occupied by B cells
abnormal alpha-beta t cell morphology A structural anomal of T cells that express an alpha-beta T cell receptor.
abnormal lipoprotein level any anomaly in the concentrations of any complex or compound containing both lipid and protein, are important components of biological membranes and myelin, and participate in lipid transport
decreased sensory neuron number fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses
absent esophagus absence of the part of the digestive canal through which food passes from the pharynx to the stomach
increased circulating lipase level elevated blood level of lipase in the blood, in particular the serum
abnormal reproductive system development developmental anomaly of any of the organs involved in the reproductive system
increased cns synapse formation greater frequency of the process of generating the initial connections between an axon and effector tissue or neuron
abnormal nose morphology any structural anomaly of the organ that is specialized for smell and is part of the respiratory system
abnormal pleuropericardial membrane morphology any structural anomaly of the membrane formed by the paired folds that grow out from the lateral part of the body wall; the folds fuse and meet with the dorsal and ventral mesentery of the foregut, separating the pleural cavities from the pericardial cavity
abnormal vocalization an inability, decreased ability or altered ability to produce sound from the vocal organs; or a general increase or decrease in the production of vocal sound
supernumerary incisors more than the usual number of incisors, normally consisting of two pairs, top and bottom, of the long teeth that are the most anterior and prominent in the jaw
abnormal dentate gyrus morphology any structural anomaly of one of two interlocking gyri of the hippocampus formation that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus
abnormal urine sodium level any change in the amount of sodium in the urine
small prostate gland anterior lobe reduced size of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles
absent external female genitalia absence of the external feminine genital organs, collectively known as the vulva
absent solitary pulmonary neuroendocrine cells absence of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis
testicular hyperplasia overdevelopment or increased size, usually due an increased number of cells in the testes
abnormal gonadal ridge morphology any structural anomaly of the elevation of thickened mesothelium and underlying mesenchyme found on the ventromedial border of the embryonic mesonephros in which the primordial germ cells become embedded, establishing it as the primordium of the testis or ovary
increased skin tumor incidence greater than the expected number of neoplasms in the skin tissue usually in the form of a distinct mass, in a specific population in a given time period
decreased igg level An abnormally decreased level of immunoglobulin IgG in blood.
absent foregut absence of the anterior portion of the primitive digestive tube of the embryo that lies cephalic to the junction of the yolk stalk, consists of endodermal tissue, and gives rise to the pharynx, lower respiratory system, esophagus, stomach, duodenum proximal to the biliary tract, liver, pancreas, biliary tract, and gall bladder
abnormal ureteric bud trunk morphology any structural anomaly of the ureteric bud cells that elongate to form a rigid structure (stalk) consisting of polarized epithelial cells without branching; the stalks differentiate into the collecting system of the mature kidney, while the tip cells interact with the adjacent cells of the metanephric mesenchyme, inducing their conversion into nephrons
abnormal tumor necrosis factor level deviation from the normal levels of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium
abnormal rostral migratory stream morphology any structural anomaly of the transient structure formed by neurons migrating from the subventricular zone into the olfactory bulbs
decreased susceptibility to diet-induced obesity less likely to become excessively overweight or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat
polyovular ovarian follicle an ovarian follicle containing more than one oocyte (ovum)
absent zigzag hairs absence of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla
abnormal hair medullary septa cells septa-forming cells of hair medulla are abnormal in size or arrangement
semilunar valve regurgitation the backward reflux of blood through the semilunar valve(s), due to insufficiency caused by disease, aging or congenital malformation
abnormal sensitization to xenobiotic anomaly in the process in which a progressive amplification of a behavioral response follows repeated administration of a xenobiotic
decreased thecal cell number fewer than normal numbers of cells in the sheath of stroma surrounding a secondary ovarian follicle
hippocampus pyramidal cell degeneration a retrogressive impairment or destruction of a multipolar projection neuron in the hippocampus pyramidal cell layer
long femur increased length of the long bone of the thigh
increased interleukin-1 secretion increase in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens
abnormal habituation to a new environment anomaly in the process in which there is a progressive decline of behavioral response probability with an exposure to a new environment
abnormal renal transport any anomaly of the directed movement of substances through the kidney
absent choroid plexus absence of the infoldings of blood vessels of the pia mater covered by a thin coat of ependymal cells that form tufted projections into the third, fourth, and lateral ventricles of the brain
abnormal cartilage development anomaly in the formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life
pigmentation phenotype
oligodactyly A developmental defect resulting in the presence of fewer than the normal number of digits.
small lung lobe reduced size of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls of connective tissue)
decreased nephron number
increased circulating interferon-alpha level increase in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells
caudal rachischisis congenitial fissure of the vertebral column at the caudal end of the body
common atrium Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.
abnormal myometrium morphology any structural anomaly of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium
abnormal zona reticularis morphology any structural anomaly of the inner zone of the adrenal cortex that produces the enzymes that convert pregnenolone, a 21-carbon steroid, to 19-carbon steroids
absent vestibulocochlear ganglion absence of the group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia
increased basal metabolism increase in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
abnormal glycosylated hemoglobin level aberrant concentration in the blood of modified form of hemoglobin with an attached saccharide molecule; this is commonly used to estimate blood glucose levels over the lifespan of the red blood cell
abnormal utricle morphology any structural anomaly of the larger of the two sacs in the vestibule
increased tail pigmentation visually detectable excess of pigment present on the tail surface
abnormal bronchiole morphology any structural anomaly of the conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching
abnormal sex determination Anomaly of primary or secondary sexual development or characteristics.
increased glucagon secretion greater than normal production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes
increased susceptibility to graft versus host disease greater likelihood of developing clinical symptoms of anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the a graft versus host reaction, which is an immunological attack mounted by a graft against the host because of tissue incompatibility when immunologically competent cells are transplanted to an immunologically incompetent host
excessive tearing
increased neurofibrosarcoma incidence greater than the expected number of a highly aggressive malignant neoplasm arising from the fibrous connective tissue surrounding peripheral nerves, in a specific population in a given time period
perinatal lethality
absent prechordal mesoderm absence of or failure to form the area of axial mesoderm that develops into the prechordal plate
abnormal positive t cell selection any anomaly in the process of sparing immature T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death
increased adrenocortical adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the adrenal cortex, occurring in a specific population in a given time period
abnormal leydig cell morphology any structural anomaly of the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone (LH); Leydig cells are polyhedral in shape, display a large prominent nucleus, an eosinophilic cytoplasm and numerous lipid-filled vesicles
abnormal lymph organ development anomaly in the process of morphological maturation of the organs of the lymph system
abnormal pre-botzinger complex physiology any functional anomaly of the group of interneurons within the medulla oblongata's ventral respiratory group that are important for the generation of ventilatory (inspiratory) rhythmogenesis
retinal photoreceptor degeneration a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina
abnormal circulating homocysteine level aberrant amount in the blood of sulfur-containing alpha-amino acid found in the plasma; blood levels are regulated by folic acid, vitamin B6 and vitamin B12
decreased peroxidase activity reduced ability to catalyze the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O
absent mandibular condyloid process absence of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint
abnormal white fat cell size anomaly in the size of fat cells with light coloration and few mitochondria
increased cellular sensitivity to methylmethanesulfonate greater incidence of cell death following exposure to methylmethanesulfonate
abnormal harderian gland pigmentation any anomaly in the coloring of the sebaceous gland located behind the eyeball in the orbit that excretes fluid that facilitates movement of the third eyelid, due to changes in the amount, shape, or distribution of cells producing pigment
decreased tidal volume less than the normal volume of air inspired or expired during each normal respiratory cycle
abnormal embryonic neuroepithelial cell proliferation any anomaly in the ability of the cells of the embryonic neuroepithelium to undergo expansion by cell division
increased sebum secretion increased production and/or release of the lipid-rich substance that is produced by the sebaceous glands, acts to lubricate and waterproof the skin and hair of mammals, and provides antibacterial activity; sebum is released by disintegrating sebocytes that are continuously replaced from progenitors in the periphery of the sebaceous gland; its composition varies across species
decreased endometrial gland number fewer than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus
absent pituitary intermediate lobe absence of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults
increased parathyroid gland tumor incidence greater than the expected number of neoplams in the parathyroid gland occurring in a specific population in a given time period
abnormal heart ventricle wall thickness anomaly in the depth of the cardiac wall of the heart ventricles
abnormal cell cycle checkpoint function anomaly in the amount of time spent at the points in the cell cycle (end of G1 phase, end of G2 phase, and during metaphase) which prevent the cell from progressing to the next phase when conditions are unfavorable
abnormal adenohypophysis morphology any structural anomaly of the anterior part of the pituitary that secretes a variety of hormones; its function is regulated by the hypothalamus
abnormal fungiform papillae morphology any structural anomaly of the mushroom-shaped papillae, which have a single taste bud at the tip, located mostly on the dorsal anterior portion of the tongue
abnormal compact bone lamellar structure any structural anomaly of the concentric layers of calcified matrix interspersed with osteocytes lodged in lacunae between the lamellae that comprise the cylindrical osteons
decreased rhombomere 1 size reduced size of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus
absent umbilical cord absence of or failure to form the connective stalk between the fetus and the placenta
increased sternebra number increased average number of the segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum
abnormal limb posture atypical intentionally or habitually assumed position of the limbs compared to the normal carriage of the body
abnormal forelimb morphology any structural anomaly of the projecting rostral-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm or front limb in mammalian species
increased renal glomerulus basement membrane thickness increased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule
abnormal kidney collecting duct epithelium morphology any structural anomaly of the simple cuboidal epithelium lining the lumen of kidney collecting ducts; the mature and differentiated CD epithelium comprises two unique cells types with principal cells responsible for vasopressin-regulated water reabsorption, and intercalated cells regulating acid-base homeostasis; injury to the epithelium is believed to cause epithelial cells to acquire mesenchymal characteristics via epithelial-mesenchymal transition (EMT), a process through which tubular epithelial cells may transform into interstitial fibroblasts and promote renal fibrosis
increased erythroid progenitor cell number greater numbers of progenitors of the erythrocyte lineage
abnormal common carotid artery morphology any structural anomaly of the left or right common carotid arteries which extend headward on each side of the anterior neck and deliver oxygenated nutrient filled blood from the heart to the head, neck and brain; the left originates in the arch of the aorta over the heart; the right originates in the brachiocephalic trunk, the largest branch from the arch of the aorta; each common carotid artery divides into an external and an internal carotid artery
impaired limb coordination reduced ability to organize limb movements to execute complex maneuvers, such as walking
constipation
increased fetal cardiomyocyte proliferation increase in the ability of the differentiating cardiac muscle cell population to undergo expansion by cell division
small rathke's pouch reduced size of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland
abnormal adrenal gland weight abnormal weight of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla
progressive hair loss thinning of hair (coat) over time, usually in a defined pattern, until entirely gone with no recurrent growth
increased skeletal muscle mass increase in the physical bulk, or total amount of matter contained within skeletal muscle
absent hippocampus missing convoluted brain structure below the cerebral hemispheres; forms part of the limbic system
absent conotruncal ridges absence of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum
abnormal red blood cell deformability a measure (DImax) related to cell surface area, of the changeability of the membrane of circulating oxygen transporting cells as a function of physiologically relevant osmolality at a constant applied shear stress
decreased cranium height decrease in the rostral-caudal distance between the cranial base and the upper domelike portion of the skull
abnormal occipital lobe morphology any structural anomaly of the posterior part of the cerebral hemisphere
increased peyer's patch number greater number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles
long stride length increased average distance between steps
decreased uterine nk cell number reduced cell number of a natural killer cell subset that is found in the decidual of the uterus, is CD56-high, Galectin-1-positive and CD16-negative, and is the most abundant immune cell type in the decidual during the first trimester of pregnancy
abnormal l4 dorsal root ganglion morphology any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the fourth lumbar vertebra
abnormal circulating lipase level any anomaly in the concentration of lipase in the blood, in particular the serum; the measurement of serum lipase activity is widely used for the diagnosis of acute pancreatitis
abnormal anterior stroma morphology any structural anomaly of the anterior segment of the lamellated connective tissue layer of the cornea
emphysema A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.
bifid ureter Incomplete duplication of the ureter.
decreased muscle weight less than average muscle weight
annular pancreas A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.
abnormal tegmentum morphology any structural anomaly of the floor of the midbrain which extends from the substantia nigra to the level of the cerebral aqueduct
abnormal tectum morphology any structural anomaly of the rostral part of the midbrain roof
abnormal coronary sinus morphology any structural anomaly of the short trunk that recieves most of the cardiac veins carrying the blood from the myocardium and delivers it to the right atrium, with the sinoatrial connection occurring between the inferior vena cava and the atrioventricular orifice
omphalocele A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.
abnormal malleus neck morphology any structural anomaly of the narrow contracted section of the malleus located between the head and the manubrium
jerky movement continuous, abrupt, faltering motions of the whole body or a portion of the body
abnormal resting posture atypical intentionally or habitually assumed position of the limbs compared to normal carriage when the body is inactive
abnormal b cell differentiation atypical production of or inability to produce mature B cells, and/or accumulation of B cell precursors
decreased interleukin-10 secretion reduction in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation
decreased susceptibility to viral infection induced morbidity/mortality reduced likelihood that an organism will display the expected moribund state caused by a viral invasion or from components of or toxins produced by a virus
abnormal uterine receptivity any alteration in the time sensitive process of uterine differentiation that occurs in response to implantation competent blastocysts and precedes and is necessary for embryo implantation
glossopharyngeal nerve hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue; the branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion
atrial endocarditis inflammation affecting the atrial chambers of the heart
increased liver triglyceride level greater concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver
abnormal hard palate morphology any structural anomaly of the anterior part of the palate that is supported by and includes the palatal extensions of the maxillary and palatine bones in the adult
detached otolithic membrane the otolithic (otoconial) membrane is abnormally detached from the underlying neuroepithelium
small sperm head reduced size of the head segment of the sperm cell
decreased cholesterol efflux reduced level of removal of excess cholesterol from cells by an active transport pathway
embryonic growth retardation slow or limited development during the embryonic period (sensu Mus: up to E14, or the completion of organogenesis)
chromosome breakage A type of chromosomal aberration characterized by an increased susceptibility to chromosomal breakage induced by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.
delayed hair regrowth slow initiation and asynchrony of the hair growth cycle (anagen) after catagen phase
decreased brown fat cell size reduction in the size of fat cells from the thermogenic form of adipose tissue
abnormal body composition aberrant relative amount and distribution of bone, body fat, muscle or lean tissue mass
unilateral deafness A unilateral absence of sensory perception of sound.
abnormal developmental vascular remodeling any anomaly in the process by which existing vessels are reorganized during development
abnormal follicular b cell physiology abnormal function of a resting mature B cell with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen
abnormal rhombomere 1 morphology any structural anomaly of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus
disorganized retinal outer plexiform layer a derangement of the normal pattern of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)
decreased ornithine carbamoyltransferase activity reduced ability to catalyze the reaction: carbamoyl phosphate + L-ornithine = phosphate + L-citrulline
abnormal prolactin level
sacral vertebral fusion the union of one or more sacral vertebrae into a single structure in species where this does not normally occur
abnormal bruch membrane morphology any structural anomaly of the transparent, nearly structureless inner layer of the choroid in contact with the pigmented layer of the retina
decreased brown fat cell number reduction in the number of fat cells from the thermogenic form of adipose tissue
abnormal sebaceous gland physiology any functional anomaly of the holocrine glands that secrete sebum into the hair follicles or in hairless areas into ducts
bifurcated rathke's pouch the appearance of an abnormal division in the diverticulum arsing from the embryonic buccal cavity from which the anterior lobe of the pituitary gland is developed
abnormal somite shape anomaly in the characteristic surface outline or contour of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo
peptic ulcer An ulcer of the gastrointestinal tract.
abnormal neutrophil morphology any structural anomaly of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes
analgesia An agnosia that is a loss of the ability to perceive and process pain.
abnormal dermal layer morphology any structural anomaly or atypical condition of the dermal layer of the skin
abnormal submandibular duct morphology any structural anomaly of the duct of the submadibular gland that opens at the sublingual papilla near the frenulum of the tongue
anuria
abnormal interfrontal bone morphology any structural anomaly or presence of a bone between the frontal bones in the skull; an extra bony plate within the anterior fontanelle that is not usually present
impaired branching involved in respiratory bronchiole morphogenesis partial or complete failure of the process in which the branched structure of the respiratory bronchioles are generated
absent anterior chamber absence of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens
decreased iga level less than normal immunoglobulin class A level
colitis Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER.
abnormal metabolism any anomaly in the processes that cause many of the chemical changes in living organisms, including anabolism and catabolism; metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation
abnormal cns glial cell morphology any structural anomaly of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons
decreased circulating levels of thyroid hormone reduced concentration of hormones in the blood that are synthesized and secreted by the thyroid
abnormal lipid level any anomaly in the concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body
absent alveolar pores absence of the openings in the alveolar septum that permit air flow between adjacent alveoli
telencephalon hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures
abnormal cardiovascular development aberrant formation or incomplete differentiation of the cardiovascular system
increased mesenchymal cell proliferation involved in lung development increase in the expansion rate of a lung mesenchymal cell population by cell division
forebrain hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions)
crystalluria excretion of crystalline material in the urine
ectrodactyly A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.
abnormal pulmonary alveolus wall morphology
scapular bone hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in either or both of the large, flat bones of the back part of the shoulder
abnormal olfactory cortex morphology any structural anomaly of cortex area which receives its major afferents from the olfactory bulb, and is primarily responsible for the identification of odors
enlarged corpus epididymis increase in the average size of the body of the epididymis
abnormal t cell apoptosis change in the timing or the number of T cells undergoing programmed cell death
motor neuron degeneration retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses
miotic pupils contraction of the pupils
abnormal neurotransmitter uptake aberration in the reabsorbtion of endogenous signaling molecules released into a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell
increased circulating carnitine level greater than normal blood concentration of this quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane
increased interleukin-2 secretion increase in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes
decreased mast cell histamine storage reduced amounts of histamine stored in mast cells
pancreatic islet hypoplasia underdevelopment or decreased size of the clusters of hormone-producing cells that are scattered throughout the pancreas, usually due an decreased number of cells
abnormal mammary gland morphology any structural anomaly of the compound, alveolar and apocrine accessory gland of the skin of mammals that secretes milk
abnormal circulating mineralocorticoid level aberrant blood concentration of corticosteroids that influence water and electrolyte metabolism and balance
abnormal long term spatial reference memory anomaly in long-term memory for spatial location information that is consolidated over hours and days after training or an encounter at that location
decreased bone volume reduced amount of space occupied by bone tissue in the skeleton
abnormal ureterovesical junction morphology any structural anomaly of the valve-like structure found at the site of entry of the ureter into the urinary bladder, normally displays an oblique angulation through the detrusor to avoid reflux of urine up the ureters and the kidney
abnormal m lines any structural anomaly of the band in the center of the H band that contains proteins that crosslink the thick filament system (myosins) and the M-band part of the elastic filaments
abnormal saccharin consumption subjects demonstrate interest in ingesting saccharine
abnormal circulating interferon-gamma level anomaly in the amount in the blood of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation
decreased macrophage apoptosis reduced incidence of cell death in macrophages
lumbar vertebral transformation homeotic transformation of any lumbar vertebrae to adopt the fate of another vertebrae
decreased susceptibility to fungal infection reduced likelihood that an organism will develop ill effects from infection by a yeast or mold, or from components of, or toxins produced by, these organisms
abnormal airway basal cell morphology any structural anomaly of a long-lived multipotent stem cell of the pseudostratified airway epithelium which is restricted to the tracheal epithelium in mice; airway BCs have been shown to be capable of self renewal, give rise to secretory (Clara) cells and ciliated cells, and play important roles both in epithelial homeostasis and in pathological airway remodeling
abnormal glycerol level abnormal level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source
abnormal umami taste sensitivity changes in the ability to perceive a particular flavor or suggestion of something umami (savory) by the chemoreceptors of the gustatory system
increased hepatocyte proliferation increase in the expansion rate of the hepatocyte cell population by cell division
abnormal ly6c high monocyte number deviation in the number of monocytes that express high levels of Ly6C and low MHC class II that represent a subset of circulating inflammatory monocytes that are recruited to infected or inflamed tissues
seminal vesicle hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of one of the two folded, sac shaped glands that is a diverticulum of the ductus deferens
abnormal t cell proliferation anomaly in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli
decreased activity of thyroid
dystonia
abnormal mitochondrial atp synthesis coupled electron transport anomaly in the transfer of electrons through a series of electron donors and acceptors, generating energy that is ultimately used for synthesis of ATP, as it occurs in the mitochondrial inner membrane and mediated by multisubunit enzyme complexes known as complex I-IV
skeletal muscle fiber degeneration pathological deterioration of skeletal muscle fiber tissue, often accompanied by loss of function
truncated loop of henle failure of the developing loop of Henle to elongate and extend into the medullary zone of the kidney
decreased compact bone mass less than normal total amount of compact bone tissue contained in the skeleton
abnormal t cell subpopulation ratio deviation from the standard ratios of T cell subpopulations (e.g. double positive to single positive ratio) compared to control samples
abnormal pancreatic delta cell morphology any structural anomaly of the cells found in the pancreas that secrete somatostatin
abnormal decidua basalis morphology any structural anomaly of the area of uterine endometrium found between the implanted chorionic vesicle and the myometrium; with continued growth of the embryo, the decidua basalis becomes incorporated into the maternal component of the definitive placenta
abnormal pituitary gland size anomaly in the average size of the compound gland suspended from the base of the hypothalamus
absent peripheral lymph nodes absence of the lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes
visceral vascular congestion obstruction of the normal flux of blood within the blood vessel network of the internal organs enclosed within the cavity of the body, such as the thoracic, abdominal, endocrine, and pelvic organs
abnormal interferon level deviation from the normal levels of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions
abnormal circulating fructosamine level any anomaly in the concentration in the blood of total non enzymatic glycated proteins in the blood
abnormal synaptic depression changes in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation
abnormal interferon-gamma secretion anomaly in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation
herniated intestine protrusion of any portion of the intestine from its normal anatomical position
decreased gamma-delta intraepithelial t cell number reduced number of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements
small occipital bone reduced size of the bone at the lower, posterior part of the skull
abnormal urine ammonia level any change in the amount of ammonia in urine
abnormal axon fasciculation anomaly in the process by which axons form into nerve fiber bundles
decreased interleukin-6 secretion reduction in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts
kinked vibrissae sharp bends in the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors
dilated aortic sac abnormally stretched or widened aperture of the luminal space of the endothelial lined dilation that is located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates
thin epidermis reduced thickness of the superficial epithelial portion of the skin
decreased circulating estradiol level less than the normal blood concentration of this most potent naturally occurring estrogen in mammals
small first pharyngeal arch reduced size of the first branchial arch
abnormal branching involved in ureteric bud morphogenesis anomaly in the process in which the branching structure of the ureteric bud is generated and organized
increased coronary flow rate elevated rate of blood flow in the blood vessels supplying the heart
arrhythmic circadian persistence loss of any rhythmic pattern upon removal of time cues
abnormal stomach cardiac region morphology any structural anomaly of the stomach region where the esophagus empties into the stomach
pointed snout muzzle tapers to a small tip, sharper angle than wild type
increased circulating interleukin-1 beta level increased in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane
increased hepatocyte apoptosis increase in the number of hepatocytes undergoing programmed cell death
decreased percent water in carcass less than the normal total amount of water retained in the body measured post mortem
abnormal cochlear outer hair cell number abnormal number of the columnar outer hair sensory cells of the organ of Corti
absent nipple Congenital failure to develop, and absence of, the nipple.
increased brain copper level a greater accumulation of copper in the brain tissue compared to controls
biliary cirrhosis liver damage to parenchymal cells due to obstruction of bile flow in the bile ducts
increased cochlear hair cell number increased number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve
ovary cysts the appearance of fluid-filled sacs within the ovary
right-sided stomach stomach is present on the right side of the body instead of the left
caudal vertebral fusion the union of one or more caudal vertebrae into a single structure in species where this does not normally occur
hyperchylomicronemia OMIM mapping confirmed by DO. [SN].
abnormal rhombomere 2 morphology any structural anomaly of the second transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order
increased interscapular fat pad weight greater than average weight of the encapsulated adipose tissue located between the scapulae
anterior cortical cataracts a lens opacity, frequently punctate, affecting the anterior pole of the lens cortex in which spokes or wedges progressively extend from the outside of the lens towards the center
increased axial mesoderm size greater than average size of the part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord
abnormal lymphocyte morphology any structural anomaly of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells
abnormal urine color any alteration from the usual straw-coloration of the urine
abnormal prostaglandin level anomaly in the amount in the body of any of a class of mediators with effects of vasodilation, vasoconstriction, and smooth muscle stimulation
absent coat pigmentation fur or hair is devoid of coloration and appears white
abnormal pancreatic epsilon cell differentiation atypical production of or inability to produce the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin, and/or accumulation of pancreatic epsilon cell precursors
increased insulin secretion greater production or release of this hormone secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids
abnormal heart shape any anomaly in the characteristic surface outline or contour of the heart
abnormal tympanic membrane morphology any structural anomaly of the thin, tense membrane forming the greater part of the lateral wall of the tympanic cavity and separating it from the external acoustic meatus; the tympanic membrane constitutes the boundary between the external and middle ear
lung epithelium hyperplasia overdevelopment or increased size, usually due an increased number of cells in the epithelial layer of the lung
enlarged cervical lymph nodes increased size of the lymph nodes found near the neck and shoulders
abnormal cranial suture morphology any structural anomaly of the dense, fibrous connective tissue joint between the bones of the head
abnormal respiratory system morphology A structural anomaly of the respiratoy system.
abnormal follicular dendritic cell antigen presentation anomaly in the ability of follicular dendritic cells to process and present antigen to B lymphocytes
bowed tibia A bending or abnormal curvature of the tibia.
absent utricle absence of the larger of the two sacs in the vestibule
decreased trophoblast giant cell number fewer than normal number of cells of the extraembryonic cell layer that contributes to the placenta
abnormal brain interneuron morphology any structural anomaly of neurons that exclusively interact with other neurons in the brain; this includes most brain neuronal cell types
increased liver adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the liver, occurring in a specific population in a given time period
increased alpha-fetoprotein level
abnormal circadian persistence anomaly in the ability for an animal to retain a circadian rhythm when time cues are removed
abnormal molar morphology any structural anomaly of the most posterior teeth located on either side of the jaw, characterized by a large crown and broad chewing surface
centrally nucleated skeletal muscle fibers An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).
abnormal presomitic mesoderm morphology any structural anomaly of the unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form
abnormal basilar artery morphology any structural anomaly of the unpaired artery that is formed by the union of the two vertebral arteries, runs forward within the skull just under the pons, divides into the two posterior cerebral arteries, and supplies the pons, cerebellum, posterior part of the cerebrum, and the inner ear
adipsia failure to drink
absent langerhans cell absence of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus
glomerular capillary thrombosis formation or presence of a thrombus within the renal glomerular capillaries
pharynx hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the passage between the mouth and the posterior nares and the larynx and esophagus
increased liver cholesterol level greater than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues
abnormal tracheal ciliated epithelium morphology any structural anomaly of the epithelial lining of the trachea which contains numerous ciliated cells
increased lactate dehydrogenase level elevated level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate
abnormal inferior olivary complex morphology any structural anomaly in the capsule-shaped structure in the ventral medulla located just lateral and dorsal to the medullary pyramids; neurons in the inferior olivary nucleus are the source of climbing fiber input to the cerebellar cortex and have been implicated in various functions, such as learning and timing of movements
impaired febrile response reduced or absent febrile response to exogenous or endogenous pyrogens
abnormal vestibular aqueduct morphology any structural anomaly in the small bony canal that surrounds the endolymphatic duct canal and links the vestibule of the inner ear to the posterior part of the internal surface of the petrous temporal bone
absent nasal capsule absence of the cartilage around the developing nasal cavity of the embryo
increased splenocyte proliferation increase in the expansion rate of a splenocyte cell population by cell division
hypodipsia abnormally diminished thirst with a consequential reduction of fluid intake; often related to dysfunction of the thirst osmoreceptor in the anterior hypothalamus
pancreas inflammation
abnormal bone marrow development anomaly in the formation of the soft, pulpy tissue filling the medullary cavities of bones
thick pulmonary valve cusps an increase in the ratio of the pulmonary valve cusp thickness to the pulmonary artery wall thickness
increased integument system tumor incidence greater than the expected number of tumors originating in the integument system in a given population in a given time period
abnormal intestine morphology any structural anomaly of the digestive tube passing from the stomach to the anus, consisting of the small and large intestine divisions
tumorigenesis
abnormal sacral vertebrae morphology any structural anomaly of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae
abnormal oocyte morphology any structural anomaly of the mature germ cells in the female
abnormal growth hormone level anomalous concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization
absent lymph node germinal center absence of the area of the lymph node secondary follicle where antigen-activated B-cell blasts are stimulated by antigens and proliferate, with the immunoglobulin genes undergoing somatic hypermutation, before the cells migrate away as plasma cells or memory cells
abnormal modiolus morphology any structural anomaly of the central cone shaped core of spongy bone about which turns the spiral canal
abnormal sympathetic system morphology any structural anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body's response to stressful situations
aortitis
abnormal liquid preference the desire to drink more or less fluids than average, or to drink unusual fluids
abnormal blood volume any anomaly in the amount of space occupied by the blood in the vessels
abnormal adipose tissue morphology any structural anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue
eyelid hyperplasia overdevelopment or increased size of the skin folds covering the front of the eyeball, usually due to an increased cell number
abnormal axon morphology any structural anomaly of the single process of a nerve cell that normally conducts impulses away from the cell body
decreased schwann cell number fewer than normal number of cells that sheath the axons of the peripheral nervous system
abnormal internal auditory canal morphology any structural anomaly in the canal beginning at the opening of the internal acoustic meatus in the posterior cranial fossa, passing laterally through the petrous portion of the temporal bone to end at the fundus, where a thin plate of bone separates it from the vestibule; it gives passage to the facial and vestibulocochlear nerves together with the labyrinthine artery and veins
small external male genitalia reduced size of the external masculine genital organs
abnormal olfactory bulb external plexiform layer morphology any structural anomaly of the part of the olfactory bulb, lying superior to the mitral cell layer and inferior to the glomerular layer, which is mostly neuropil composed almost entirely of mitral and tufted cell dendrites, granule cell dendrites and their synaptic inputs
shortened pr interval Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.
abnormal amnion morphology any structural anomaly of the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected
abnormal diestrus any anomaly or aberrant timing of the last phase of the estrous cycle, during which unfertilized eggs are eliminated, the vagina and vulva are at a minimum size, and new follicles begin to undergo a rapid growth for the next ovulation; if pregnancy does not occur, the metestrous phase is ultimately followed by the diestrous phase
abnormal lens induction any anomaly in the signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens
long ulna Increased length of the ulna.
absent optic chiasm absence of the flattened quadrangular body that is the point of crossing of the fibers of the optic nerves
short vertebral column decreased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord
abnormal nervous system tract morphology any structural anomaly in the structure of any bundle of myelinated nerve fibers following a defined path through the brain and/or spinal cord
small clitoris Developmental hypoplasia of the clitoris.
oily skin skin secreting an unusually high amount of oil, resulting in a glossy, shiny appearance
dilated efferent ductules of testis an expansion in the volume or area of the lumen of the small seminal ducts that lead from the testis to the head of the epididymis, usually with an increase in contained fluid
abnormal exocrine pancreas physiology any functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes
abnormal visceral yolk sac blood island morphology any structural anomaly of the masses of developing blood cells attached to endothelium in the yolk sac
abnormal respiratory epithelium morphology Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.
decreased circulating fructosamine level decrease in the concentration in the blood of total non enzymatic glycated proteins in the blood
decreased glomerular capsule space reduced volume of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries
abnormal common crus morphology any structural anomaly in the united, nonampullary ends of the superior and posterior semicircular ducts of the inner ear
chromatolysis the dissolution of the granules of chromophil substance in a nerve cell body that may occur in injured cells or axons
abnormal oviduct environment anomaly or inability of the oviduct to support egg viability
decreased susceptibility to induced choroidal neovascularization reduction or absence of growth of new, abnormal blood vessels that originate in the choroid through a break in the Bruch membrane into the sub-retinal pigment epithelium or subretinal space and may result in visual loss as a result of chemical or mechanical manipulation (e.g. laser-induced trauma)
abnormal synaptic acetylcholine release aberrant release into synapses of the excitatory neurotransmitter found at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector junctions, and at many sites in the central nervous system
increased mitotic index increased number of cells in G2/M phase
increased pituitary gland weight greater than average weight of the compound gland suspended from the base of the hypothalamus
absent brunner's glands absence of the branched acinotubular glands found in the submucosa of the duodenum located above the Sphincter of Oddi; their main function is to produce a mucus-rich alkaline secretion (containing bicarbonate) to protect the duodenum from the acidic content of chyme, provide an alkaline condition for the intestinal enzymes to be active (thus enabling absorption to take place), and lubricate the intestinal walls; they also secrete urogastrone, which inhibits parietal and chief cells of the stomach from secreting acid and their digestive enzymes
abnormal hormone level aberrant tissue or circulating concentration of any substance, usually a peptide or steroid, that has a specific metabolic regulatory effect on the activity or behavior of cells expressing a receptor for the hormone
thin spiral ligament reduced thickness of the periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches
ectopic thymus
abnormal response to tactile stimuli anomaly in the reflex action normally induced by touch or pain
absent tail bud missing the primordial region of the embryo that arises to form the tail of the adult
abnormal creatine kinase level abnormal level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
enlarged hair follicles increased size of the epidermal invaginations from which the hair shaft develops
increased ganglioneuroma incidence greater than the expected number of a benign neoplasm composed of mature ganglionic neurons in a given population in a given time period; cells may be scattered singly or in clumps within a relatively abundant and dense stroma of neurofibrils and collagenous fibers
big ears
abnormal cardiogenic mesoderm morphology any structural anomaly of the splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium
absent reichert's membrane absence of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal endoderm; normally required for the maternofetal exchange of nutrients and important for postgastrulation development
abnormal female germ cell morphology any structural anomaly female germ cells whether they are undifferentiated or fully differentiated
abnormal syncytiotrophoblast morphology any structural anomaly of the multi-nucleated, terminally differentiated syncytial epithelial layer of the placental villi that forms the major nutrient transport surfaces within the labyrinth layer of the rodent placenta
increased unsaturated fatty acid level elevated concentration of unsaturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; unsaturated fatty acids commonly have a chain of 4 to 28 carbons which possess one or more double or triple bonds between carbon atoms
oblique facial cleft
dilated uterus stretched or widened luminal space of the female muscular organ of gestation
rhinitis A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.
prolonged circadian period increase in the cycle length expressed when exposed to constant conditions without temporal cues
abnormal inner ear vestibule morphology any structural anomaly of the cavity between the semicircular canals and the cochlea of the inner ear
abnormal atrium myocardial trabeculae morphology any structural anomaly of the supporting bundles of muscular fibers lining the walls of the atria
abnormal hippocampus granule cell layer
abnormal choroid plexus morphology any structural anomaly of the infoldings of blood vessels of the pia mater covered by a thin coat of ependymal cells that form tufted projections into the third, fourth, and lateral ventricles of the brain; choroid plexuses secrete cerebrospinal fluid (CSF) and act as a filtration system, removing metabolic waste, foreign substances, and excess neurotransmitters from the CSF
delayed female fertility ability of a female organism to produce live offspring occurring at a later than expected age
abnormal platelet dense granule physiology any functional anomaly of the specialized secretory organelles located in the small, irregularly shaped anuclear cells derived from fragmentation of precursor megakaryocytes that contain adenine nucleotides (ADP and ATP), ionized calcium, histamine, serotonin, and epinephrine
decreased classified tumor incidence less than the expected number of tumors with a specific classification type in a given population in a given time period
abnormal circulating renin level aberrant blood level of the enzyme which is secreted by the kidney and cleaves a bond in angiotensionogen to generate angiotensin I
decreased interleukin-12 secretion reduction in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells
decreased osteoblast cell number reduction in the number of skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell
absent snout absence of the anterior facial part of the face or muzzle containing the oral and nasal regions
focal hepatic necrosis morphological changes resulting from one or more localized areas of pathological death of some or all liver tissue; usually due to irreversible damage
decreased susceptibility to parasitic infection induced morbidity/mortality decreased likelihood that an organism will display the expected moribund state caused by a parasitic invasion or from components of or toxins produced by parasites
myeloid hyperplasia greater than normal number of nucleated cells of the myeloid lineage (a monocyte, granulocyte, or mast cell), found in blood or other tissue
increased skeletal muscle fiber diameter increased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge
cochlear ganglion degeneration loss of neural cell bodies in the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain
hemarthrosis
lymphatic vessel hyperplasia overdevelopment or increased size, usually due an increased number of cells in lymphatic vessels
abnormal axon extension abnormality in the ability of an axon to exhibit long distance growth of a single axon process from a neuron cell body involved in cellular development
myocardium hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the heart myocardium
abnormal skin tensile strength change from the normal maximum tension the skin can withstand without tearing
decreased body temperature
abnormal hair follicle physiology any functional anomaly of the invagination of the epidermis from which the hair shaft develops
abnormal internal carotid artery morphology any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes
bile duct inflammation
overriding aortic valve
abnormal photoreceptor inner segment morphology any structural anomaly of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region
dermal cysts abnormal membranous sacs appearing in the dermis
endometrium inflammation
decreased reichert's membrane thickness reduced width of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm
trachea hypoplasia underdevelopment or reduced size of the trachea, usually due a reduced number of cells
abnormal cecum development malformation or aberrant differentiation of the large sac at the ileum and large intestine junction
abnormal wound healing aberrant process of repair of trauma to any tissues of the body, especially that caused by physical means
calcified pulmonary alveolus pathologic deposition of calcium salts in the pulmonary alveoli
abnormal nipple morphology any structural anomaly of the erectile projection at the apex of the mammary gland where the lactiferous ducts open
everted lip an outward turning of the inner surface of the lip
abnormal ciliary body morphology any structural anomaly of the thickened portion of the vascular tunic, which lies between the choroid and the iris
small meibomian gland decreased size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate
decreased mesenteric fat pad weight less than average weight of the encapsulated adipose tissue associated with the mesentery
acromegaly A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb.
retroesophageal right subclavian artery the subclavian artery aberrantly originates from the aortic arch distal to the origin of the left subclavian artery, i.e., it is the last branch of the aortic arch
abnormal t-helper 17 cell number deviation from the normal count of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17
increased tumor growth/size greater than expected development of tumorous growth when compared to controls
abnormal corpus luteum morphology any structural anomaly of the yellow endocrine body formed in the ovary after follicle rupture
abnormal heart apex morphology any structural anomaly of the lowest superficial part of the heart, normally directed downward, forward, and to the left, and overlapped by the left lung and pleura; the heart apex is formed by the inferolateral part of the left ventricle and responsible for regulating ventricle contraction
abnormal macrophage nitric oxide production any anomaly in the appearance of macrophage-derived nitric oxide due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels
decreased blood osmolality decrease in the concentration of ions in the blood compared to the normal state
abnormal lens polarity failure of normal orientation of the lens during development
cleft secondary palate
abnormal sperm physiology anomaly in the normal function of spermatozoa
increased cochlear nerve compound action potential greater combined potentials resulting from activation of the auditory division of the eighth cranial nerve
abnormal nail morphology any structural anomaly of any of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits
abnormal spatial reference memory anomaly in the ability to recall spatial location information from previous encounters or training sessions in order to navigate or perform other behavior using such location cues
decreased pulmonary respiratory rate fewer than the normal number of breaths per minute
abnormal floor plate morphology any structural anomaly of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube
increased neural tube apoptosis increase in the number of cells of the neural tube undergoing programmed cell death
increased lean body mass greater amount of the fat-free physical bulk or volume of the body including all its components except adipose (fat) tissue
increased motor neuron number greater than the normal number of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses
abnormal pancreas iron level anomaly in the amount of iron present in the liver tissue
delayed circadian phase decrease in the phase relationship between a temporal synchronizing event (such as light cycle) and a phase reference point of an animal (such as activity onset)
abnormal malleus processus brevis morphology any structural anomaly of the projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane where the tympanic cavity makes a deep pocket (epitympanic pocket) surrounding the cartilaginous nodule
abnormal glutaminergic neuron morphology any structural anomaly of the neurons that utilize glutamate as a neurotransmitter
abnormal bone trabecula morphology any structural anomaly of the network of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force
decreased vasodilation less than the expected or normal widening of the lumen of the blood vessels
abnormal glans penis morphology any structural anomaly of the conic expansion of the corpus spongiosum that forms the head of the penis
cecum inflammation local accumulation of fluid, plasma proteins, and leukocytes in the cecum
abnormal inflammatory response Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
thymus cortex hypoplasia underdevelopment or reduced size, usually due to a reduced cell number, of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes
partial embryonic lethality the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the embryonic period prior to organogenesis (Mus: prior to E14)
increased interleukin-21 secretion increase in the production or release of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells
midbrain hyperplasia overdevelopment or increased size, usually due an increased number of cells associated with the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes
abnormal tail bud morphology anomalous formation of the primordial region of the embryo that arises to form the tail of the adult; appears approximately ten days following conception as a short stump, and then initiates elongation and thinning in normal development
abnormal posterior semicircular canal morphology any structural anomaly of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance
fused vestibular hair cell stereocilia coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on vestibular hair cells, often resulting in giant stereocilia
abnormal seminiferous tubule morphology any structural anomaly of the tubules in the testes where spermatogenesis occurs
abnormal folic acid level any anomaly in the concentration of the vitamin B family member that stimulates the hematopoietic system, is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses, and is used in the treatment and prevention of folate deficiencies and megaloblastic anemia
abnormal brain internal capsule morphology any structural anomaly of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord
absent epidermis stratum basale absence of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells
increased bone mass an increase in the total amount of bone tissue contained in the skeleton
abnormal medial nasal prominence morphology any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it
increased somite number increase in the average number of somites formed relative to littermates or other controls
reduced fertility diminished ability to produce live offspring
abnormal sweet taste sensitivity changes in the ability to perceive a particular flavor or suggestion of something sweet by the chemoreceptors of the gustatory system
absent mammary gland absence of the specialized accessory gland of the skin of mammals that secretes milk
abnormal stapedial artery morphology any structural anomaly in the small artery that passes through the ring of the stapes; while the stapedial artery is a temporary artery thought to disappear at late embryonic stage in humans, the mouse stapedial artery is complete by E13 and persists into adulthood
abnormal hair cycle catagen phase anomaly in the phase of the hair growth cycle during which cell proliferation ceases, the hair follicle shortens, and an anchored hair is produced
increased b wave latency increase in the time from onset of stimulus to beginning of the b wave
absent cd4-positive, alpha beta t cells lack of the set of single-positive T cells that express CD4 on their surface
abnormal circulating amino acid level any anomaly in the amount in the blood of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group
increased number of pulmonary neuroendocrine bodies greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors
abnormal melanotroph morphology any structural anomaly of a cell of the intermediate pituitary that produces melanocyte stimulating hormone and other peptides from the post-translational processing of pro-opiomelanocortin (POMC)
decreased circulating antithrombin level lower than normal levels of the family of glycoproteins which neutralize the ability of thrombin to promote blood coagulation; low levels are associated with vein thrombosis and pulmonary embolism
diluted coat color a coat color that appears lighter in intensity or paler than normal
decreased pancreatic beta cell mass reduced total physical bulk or volume of a pancreatic beta cell compared to the normal state
dilated lateral semicircular canal stretched or widened aperture of the luminal space of the lateral semicircular canal
decreased food intake reduction in the total number of calories/food amount taken in over time when compared to the normal state
decreased circulating insulin-like growth factor i level reduced blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities
exocrine pancreas hyperplasia overdevelopment or increased size of the portion of the pancreas that secretes digestive enzymes, usually due to an increased cell number
decreased cd4-positive, alpha-beta memory t cell number reduced number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high
abnormal single-strand dna break repair anomaly in the process of repair of single strand breaks in DNA; repair of such breaks is mediated by the same enzyme systems as are used in base excision repair
rectal hemorrhage
joint inflammation
absent second pharyngeal arch absence of the structure of the second arch which contributes to the development of the stapes, styloid process, hyoid bone, stylohyoid ligament, muscles of facial expression, stapedius muscle, stylohyoid muscle, and lining of the palatine tonsils
prostate gland inflammation
abnormal lip morphology any structural anomaly of the fleshy margins of the mouth
absent schwann cells missing cells that sheath the axons of the peripheral nervous system
abnormal lacrimal apparatus morphology any structural anomaly of the network of orbital structures of the eye that secrete and drain tears from the surface of the eyeball into the nasal cavity; these parts include the lacrimal glands, lacrimal lake, lacrimal ducts, lacrimal canals, lacrimal sacs, nasolacrimal ducts, and lacrimal puncta
abnormal lung bud morphology any structural anomaly of the primary outgrowth of the embryonic trachea i.e. blunt end of the respiratory diverticulum which grows ventrally out of the proximal end of the foregut, then extends caudally and divides into two, forming the anlage of a primary bronchus and all its branches
sex reversal Development of the reproductive system is inconsistent with the chromosomal sex.
abnormal neuromere morphology any structural anomaly of the segments of the developing neural tube
abnormal leukocyte morphology any structural anomaly of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue
decreased corticotroph cell number reduced number of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH)
abnormal splenocyte number deviation from the expected number of cells of the spleen
abnormal nervous system morphology any structural anomaly of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that receive and interpret stimuli and transmit impulses to effector organs to control body functions
thoracic vertebral transformation homeotic transformation of any thoracic vertebrae to adopt the fate of another vertebrae
abnormal bronchus epithelium morphology any structural anomaly of the epithelial layer of the bronchi
increased splenic marginal zone lymphoma incidence
abnormal superior semicircular canal morphology any structural anomaly of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance
abnormal vitamin or vitamin cofactor metabolism any anomaly in the chemical reactions and pathways involving a vitamin or cofactor, including metabolic, catabolic and biosynthetic processes
abnormal postural reflex any anomaly in the responses that control the normal position of the trunk and extremities and/or posture
excessive scratching compulsive scraping of the skin, usually with the nails
impaired behavioral response to alcohol decreased sensitivity to alcohol resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response
decreased mature gamma-delta t cell number reduced number of a mature T cell expressing an gamma-delta T cell receptor complex
aniridia OMIM mapping confirmed by DO. [SN].
abnormal nasal placode morphology any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epithelium of the nose
splayed clitoris flattened or spread out clitoris
increased b cell apoptosis increase in the timing or the number of B cells undergoing programmed cell death
increased t cell apoptosis increase in the number of T cells undergoing programmed cell death
skin detachment loss of sections of skin either spontaneously or after gentle handling
prolonged hv interval increase in the length of time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity
abnormal first pharyngeal pouch morphology any structural anomaly of the first endodermal branchial pouch located between the first and second branchial arches; in mammals, the first pouch elongates to form a diverticulum known as the tubotympanic recess; the distal portion of this recess expands to reach the first branchial groove and form the middle ear cavity (aka tympanic cavity) and mastoid antrum; its proximal part remains tubular and forms the auditory tube (aka Eustachian or pharyngotympanic tube), which forms a communication between the nasopharynx and tympanic cavity
abnormal tibia morphology any structural anomaly of the medial and larger of the two bones of the lower leg
increased red blood cell distribution width higher than normal coefficient of variance (reference range) of the red blood cell volume for an organism
small dorsal root ganglion reduced size a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column
abnormal spleen marginal zone macrophage morphology any structural anomaly of the cells present in the splenic marginal zone and are involved in the recognition and clearance of material, such as pathogen-derived material, from the splenic circulation
abnormal circulating interleukin-1 beta level anomaly in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane
abnormal cell proliferation anomaly in the ability of the a cell population to undergo expansion by cell division
abnormal brain cholesterol level aberrant amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues
abnormal placenta vasculature any structural anomaly of the vessels of the placenta
abnormal secondary polar body morphology any structural anomaly of the small cell formed by the second meiotic division of oocytes; in mammals, the second polar body may fail to form unless the ovum has been penetrated by a sperm cell
abnormal bone remodeling aberrant process of the continuous turnover of bone matrix and mineral that involves a balance of resorption and reactive bone formation by osteoclasts and osteoblasts, respectively
thoracic aorta aneurysm a protruding sac formed by the dilation of the wall of the part of the aorta that extends from the origin at the heart to the diaphragm, resulting from a weakening of the vessel wall
increased post-tetanic potentiation increase in the size or duration of potentials that persist after tetanic stimulation of central synapses
abnormal membranous labyrinth morphology any structural anomaly of the complex arrangement of communicating canaliculi and sacs suspended within the cavity of the bony labyrinth of the inner ear
symblepharon A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball.
decreased brain cholesterol level less than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues
decreased metacarpal bone number reduced number of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges
increased blood osmolality increase in the concentration of ions in the blood compared to the normal state
abnormal periosteum morphology An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.
increased schwannoma incidence greater than the expected number of benign, encapsulated nerve sheath tumors composed of Schwann cells, in a specific population in a given time period; usually associated with a peripheral or cranial nerve
defective intracellular transport of class i molecules impaired ability to move major histocompatibility complex class I molecules to the cell surface
small hair follicles reduced size of the invagination of the epidermis from which the hair shaft develops
increased cellular sensitivity to alkylating agents greater incidence of cell death following exposure to agents that cause DNA damage
abnormal uterus physiology any functional anomaly of the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth
decreased oxygen consumption less than the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body
enlarged meibomian gland increased size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate
impaired natural killer cell mediated cytotoxicity impaired ability of directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors
abnormal neural fold morphology any structural anomaly of the elevated margins of the neural groove
thin retinal outer nuclear layer reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones
intracerebral hemorrhage Hemorrhage into the parenchyma of the brain.
abnormal renal/urinary system physiology any functional anomaly of any of the organs or tissues responsible for fluid volume regulation, regulating electrolytes, maintaining acid-base homeostasis, and elimination of water and water soluble waste products in an organism
increased circulating aspartate transaminase level greater than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction
increased solitary pulmonary neuroendocrine cell number increased number of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis
peripheral nervous system degeneration a retrogressive impairment of function or destruction of the ganglia and peripheral nerves that lie outside the brain and spinal cord
abnormal guard hair length anomaly in the length of the long, straight truncal hairs that contain two air cells in the medulla
abnormal limb morphology any structural anomaly of the projecting paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm and/or legs in mammalian species
abnormal skin turgor anomaly in the ability of the skin to resist deformation; influential factors include dehydration and age
short nails decrease in the length of the nails
decreased circulating serum albumin level
abnormal osteoid volume any anomaly in the amount of space occupied by newly formed organic bone matrix secreted by osteoblasts
absent extraembryonic coelom absence of the fluid-filled spaces formed within the mass of extraembryonic mesoderm that later fuse to become a large extraembryonic cavity
abnormal heart tube morphology any structural anomaly of the primitive epithelial cardiac tube before the division into the chambers of the mature heart
abnormal thymus morphology any structural anomaly of the primary lymphoid organ that is required for maturation of T cells
increased pancreatic beta cell number greater than normal number of the cells of the pancreas that secrete insulin
ureteropelvic junction obstruction Blockage of urine flow from the renal pelvis to the proximal ureter.
abnormal langerhans cell number anomaly in the number of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus
ureter obstruction
entropion
increased gonadal fat pad weight greater than average weight of the encapsulated adipose tissue associated with the ovaries or testes
abnormal diaphragm development malformation or incomplete differentiation of the thin musculomembranous barrier separating the abdominal and thoracic cavities and functioning in respiration
increased kidney copper level a greater accumulation of copper in the kidney tissue compared to controls
increased cellular hemoglobin content increase in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume
altered susceptibility to infection a change in the likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens
thick skin greater thickness of the outer protective layer of the body
mammary gland duct hyperplasia overdevelopment or increased size, usually due an increased number of cells of the tubular structure running from the nipple to the alveoli clusters in the mammary gland
abnormal blood pressure regulation any anomaly in the process that modulates the force with which blood travels through the circulatory system, which is controlled by a balance of processes that increase pressure and decrease pressure
abnormal mesangial cell morphology any structural anomaly of the modified smooth muscle cells that are interposed between endothelial cells and the basement membrane in the central or stalk region of the capillary tuft of the renal glomerulus, which regulate blood flow by their contractile activity, and secrete extracellular matrix, prostaglandins, and cytokines; mesangial cells also have phagocytic activity, removing proteins and other molecules trapped in the glomerular basement membrane or filtration barrier
abnormal female reproductive gland physiology any functional anomaly of any sex gland that is part of the female reproductive system
enlarged seminiferous tubules increased diameter of the tubules in the testes where spermatogenesis occurs
abnormal glossopharyngeal nerve morphology any structural anomaly of the sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue; the branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion
abnormal uterine cervix size anomaly in the size of the lower opening of the uterus to the vagina
abnormal interleukin-21 secretion anomaly in the production or release of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells
abnormal hypersensitivity reaction immune response that results in tissue injury
abnormal pancreatic acinar cell morphology any structural anomaly of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes
abnormal interleukin-12 secretion anomaly in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells
abnormal calcaneum morphology any structural anomaly of the largest quadrangular bone at the back of the tarsus; it forms the heel or hock and articulates with the talus above it
absent internal male genitalia absence of the internal masculine genital organs, including the testes, epididymides, deferent ducts, seminal vesicles, prostate, ejaculatory ducts, and bulbourethral glands
failure of eyelid fusion the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye do not fuse together during development; normally fused by E17 in the mouse
abnormal nucleus pulposus morphology any structural anomaly of the jelly-like substance in the middle of the spinal disc which is a remnant of the notochord
abnormal limb bone morphology any structural anomaly of the limb or autopod bones
tubular nephritis inflammation of the renal tubules
abnormal vagus nerve morphology any structural anomaly of the autonomic, sensory and motor axons of the tenth cranial nerve; it is primarily sensory but also has visceromotor components; it originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components, and also controls some motor functions such as speech; the sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis
abnormal craniofacial morphology any structural anomaly of the face or head affecting appearance
abnormal hypothalamus secretion altered ability of the hypothalamus to produce or release biologically active substances
increased circulating ketone body level greater than the normal amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acteone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus
decreased ventral retina size decreasd size of the ventral portion of the retina
osteosclerosis A bone remodeling disease that results_in abnormal elevated bone density or mass.
ectopic cartilage positional abnormality of cartilage
abnormal cajal-retzius cell morphology any structural anomaly of the distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus
abnormal a wave latency anomaly in the time from onset of stimulus to beginning of the a wave
abnormal lung compliance anomaly in the ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure
abnormal decidua capsularis morphology any structural anomaly of the layer of uterine endometrium overlying the implanted chorionic vesicle and facing the uterine cavity
increased hamartoma incidence greater than the expected number of benign focal malformations in a specific population in a given time period; results from faulty development of an organ, and is composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element normally present at that site
decreased circulating amylase level reduction in the concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood
abnormal cone electrophysiology any functional anomaly of light adapted vision mediated by the cones
impaired lung alveolus development a block or reduction in the formation of the sacs for holding air in the lungs, which are formed by the terminal dilation of air passageways
abnormal muscle spindle morphology any structural anomaly of the sensory organs in muscle that are involved in the stretch reflex
sertoli cell hyperplasia overdevelopment or increased size, usually due an increased number of cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis
abnormal radius morphology any structural anomaly of the short bone of the lateral forearm
increased trabecular bone thickness thicker than normal bone with a lattice-like or spongy structure
abnormal eosinophil morphology any structural anomaly of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions
increased susceptibility to induced arthritis more likely to be stricken with changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures that are induced by inflammatory responses caused by chemical or mechanical agents
increased susceptibility to noise-induced hearing loss greater than normal reduction in hearing sensitivity following exposure to acute noise that is injurious to the cochlea
abnormal incidence of induced tumors aberration from the normal frequency of tumor incidence induced by a carcinogen, mutagen or virus
increased epididymal fat pad weight greater than average weight of the encapsulated adipose tissue associated with the epididymis
absent primary muscle spindle missing sensory organ in muscle; involved in the stretch reflex and is sensitive to stretch velocity
abnormal hippocampus stratum oriens morphology
abnormal temporal memory anomaly in the ability to recall temporal events and stimuli
shiny fur fur with a glossy or glistening appearance
abnormal posterior eye segment morphology any structural anomaly of any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive)
abnormal loop of henle morphology any structural anomaly of the section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine
increased small intestinal crypt cell apoptosis increase in the number of small intestinal crypt cells undergoing programmed cell death
abnormal aorta elastin content anomaly in the physical amount of elastin in the aorta compared to the normal state
absent vestibular saccule absence of the smaller of the two sacs in the vestibule
prolonged somite segmentation clock period extension of the somite segmentation clock period; may lead to decreased numbers of somites and their resultant vertebrae
abnormal hindgut morphology any structural anomaly of the caudal portion of the primitive digestive tube of the embryo
absent eccrine glands absence of the coiled tubular glands situated on the digits and footpads of the paws of rodents, and both in the histologically thick skin of the palmar and plantar surfaces and in the thin skin that covers most of the rest of the body in humans
abnormal oocyte number anomaly in the number of germ cells in the female compared to the control
blind ureter a ureter ending in a blind-ended segment or pouch
abnormal cerebellar foliation any anomaly of the pattern of the ten cerebellar lobules; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres and the intermediate zone that separates the vermis from the lateral hemispheres; in addition, each of the ten basic lobules can be subdivided into sublobules but strain and species differences are reported
decreased pancreatic beta cell proliferation reduction in the ability of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas to undergo expansion by cell division
abnormal schwann cell precursor morphology any structural anomaly of the progenitors of cells that sheath the axons of the peripheral nervous system
decreased circulating luteinizing hormone level lower than normal levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary
abnormal perineural vascular plexus morphology any structural anomaly of the capillary bed that initially surrounds the relative avascular brain and spinal cord; the perineural vascular plexus (PNVP) is the precursor to the blood brain barrier formed by angioblasts which migrate away from somites and is recruited to surround the neural tube in response to VEGF; vascularization of the brain and spinal cord occurs via angiogenesis as sprouting vessels from the PNVP invade the neuroepithelium and grow inward toward the ventricular lumen
abnormal rhombomere boundary morphology any structural anomaly of the anatomical surface separating the rhombomere segments
impaired branching involved in trachea morphogenesis partial or complete failure of the process in which the two main branches of the trachea is generated and organized
abnormal somite segmentation clock anomaly or loss of the oscillatory mechanism governed by periodic shifts in gene expression and operating in the presomitic mesoderm that drives the regular periodicity with which somites are formed in the course of vertebrate segmentation. The total number of somites formed and the periodicity with which they are produced are species-specific parameters (e.g. humans have 33 somites with a somitogenesis period of approximately 6 hours while mice have 65 somites with a period of approximately 2 hours)
decreased vertical activity lesser than average time spent jumping or rearing
palate bone hypoplasia reduced size of the maxillary or palatine shelves that comprise the bones of the hard palate, usually due to reduced cell number
trunk curl posture of the trunk in a curled position
abnormal hematocrit greater or less than the average percentage of a volume of a blood sample occupied by red blood cells
imperforate hymen A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.
abnormal gabaergic neuron physiology any functional anomaly of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter
abnormal primary polar body morphology any structural anomaly of the small cell formed by the first meiotic division of oocytes
abnormal semicircular canal ampulla morphology any structural anomaly of the spherical enlargement at the base of each semicircular canal where they connect with the utricle, containing the crista ampullaris which detects movement of the fluid within the canals
increased cell nucleus count greater than one nuclei present per cell body when one is expected; often due to failed cytokinesis
greasy coat fur is oily in appearance or texture
ventricular myocardium compact layer hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the ventricular portion of the outer, dense layer of the myocardium
increased soleus weight increase in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot
decreased skeletal muscle glycogen level less than the normal concentration of a readily converted carbohydrate reserve in skeletal muscle
abnormal circulating glutamate dehydrogenase level any anomaly in the concentration in the blood of the enzymes which catalyze the reaction of L-glutamate, water and NAD+, producing alpha-ketoglutarate, ammonia, and NADH
decreased interleukin-21 secretion reduction in the production or release of a pleiotropic cytokine that regulates immunoglobulin production, plasma cell and Th17 T cell differentiation, CD8+ T cell expansion, and inhibits antigen presentation by dendritic cells
increased glucagonoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the pancreatic islet alpha cells, occurring in a specific population in a given time period; these tumors secrete excess glucagon
increased urinary bladder carcinoma incidence greater than the expected number of a malignant neoplasm of the urinary bladder, arising from epithelial cells, occurring in a specific population in a given time period
abnormal vagina weight anomaly in the weight of the female reproductive canal located between the uterus and the vulva
abnormal hepatoblast physiology any functional anomaly of the bi-potent cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into hepatocytes and cholangiocytes
abnormal apical ectodermal ridge morphology any structural anomaly of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme
abnormal type i pneumocyte morphology any structural anomaly of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange
decreased cochlear outer hair cell number decreased number (or less than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti
prognathia Abnormal prominence of the chin related to increased length of the mandible.
abnormal behavioral response to nicotine any anomaly in the behavioral response induced by nicotine, such as induced hyperactivity or stereotypic behavior
abnormal olfactory receptor morphology any structural anomaly of the proteins, usually projecting from the cilia of olfactory receptor neurons, that specifically bind odorant molecules and trigger responses in the specialized neurons of the olfactory epithelium
abnormal ear lobe morphology any structural anomaly in the soft tissue at the base of the outer ear; consists of fat and fibrous tissue not reinforced by the auricular cartilage
lymph node inflammation
increased circulating fibrinogen level greater levels in the blood of a globulin that is converted into fibrin by the action of thrombin in the presence of ionized calcium to produce coagulation of the blood
decreased fat cell size reduction in the size of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals
abnormal horizontal cell morphology any structural anomaly of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina
abnormal spinal cord ependymal layer morphology any structural anomaly of the cellular membrane that lines the central canal of the spinal cord
abnormal mortality induced by ionizing radiation anomaly in the sensitivity to doses of ionizing radiation that include ultraviolet light, X-rays, or gamma rays, resulting in death
absent ectoplacental cavity absence of the closed space within the ectoplacental cone, formed by the fusion of the parts of the amniotic fold that separate it from the amniotic cavity
abnormal common bile duct morphology any structural anomaly of the part of the biliary tree formed by the union of the cystic duct and the common hepatic duct
fusion of atlas and odontoid process the large protuberance that projects upward from the cervical axis (C2), around which the cervical atlas normally rotates, is instead fused to elements of the atlas; the odontoid process may or may not remain attached to the axis
absent cajal-retzius cell the absence of a distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus
increased neurofibroma incidence greater than the expected number of benign, encapsulated nerve sheath tumors composed of Schwann cells, in a specific population in a given time period; proliferation is disordered and includes portions of nerve fibers
absent inner ear absence of all components of the labyrinth, including the semicircular canals, vestibule and cochlea
abnormal aorta bulb morphology any structural anomaly of the portion of the left ventricular outflow tract delineated by the sinotubular ridge superiorly and the bases of the valve leaflets inferiorly; it comprises the aortic sinuses, the aortic valve leaflets, the commissures, and the interleaflet triangles
increased brown adipose tissue amount increased amount of the thermogenic form of adipose tissue that is composed of brown adipocytes
l5 dorsal root ganglion hypertrophy increased bulk size of L5 spinal ganglion
absent oval cells absence of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes
abnormal circadian phase anomaly in the phase relationship between a temporal synchronizing event (such as light cycle) and a phase reference point of an animal (such as activity onset)
abnormal salty taste sensitivity changes in the ability to perceive a particular flavor or suggestion of something salty by the chemoreceptors of the gustatory system
abnormal energy expenditure Any anomaly in the utilization of energy (calories).
cardiac edema abnormal accumulation of fluid in the interstitial tissues and cavities of the body due to impaired cardiac function or congestive heart failure; usually characterized by increased venous and capillary pressures and often associated with renal sodium retention
abnormal response to transplant anomaly in the body's reaction to the grafting of organs, tissues, or cells taken from the same individual for another area of the body or from another individual
small gonad
absent inner cell mass absence of the cells of the blastocyst that develop into the body of the embryo
increased brain weight greater than average weight of the brain
abnormal glomerular filtration barrier function anomaly in the function of the highly specialized blood filtration interface that displays a high conductance to small and midsized solutes in plasma but retains relative impermeability to macromolecules; its integrity is maintained by physicochemical and signalling interplay among its three core constituents -- the fenestrated endothelium of the glomerular capillaries, the glomerular basement membrane, and the filtration slits of the visceral epithelial cell (podocyte); the barrier permits the passage of water, ions, and small molecules from the bloodstream into the Bowman's space and prevents the loss of large and/or negatively charged proteins (e.g. serum albumin) from blood into urine
acanthocytosis Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.
increased leukotriene level increased concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells
abnormal lung endothelial cell physiology any functional anomaly of the squamous cells forming the lining of the pulmonary vasculature
short cochlear outer hair cells reduced height of the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve
thin malleus neck smaller diameter of the narrow contracted section of the malleus located between the head and the manubrium
short gestation period decrease in the average duration of a pregnancy
aortic elastic tissue lesions focal pathological changes in the elastic lamella of the muscular layer of the main trunk of the arterial system
abnormal respiratory mucosa goblet cell morphology any structural anomaly of the cells of the respiratory epithelial lining that produce and secrete mucins
long humerus increased length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below
abnormal submucous nerve plexus morphology any structural anomaly of the gangliated plexus of unmyelinated nerve fibers that ramify the stomach and intestinal submucosa
increased bone volume increased amount of space occupied by bone tissue in the skeleton
increased alkaline phosphatase activity greater ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum
failure of atrioventricular cushion closure failure of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal to fuse to form the valves between the right and left atrioventricular orifices
abnormal cardiac muscle tissue morphology any structural anomaly of the involuntary muscle comprising the myocardium of the heart and the walls of the pulmonary veins and superior vena cava; cardiac muscle is striated and multinucleate, and the cardiomyocytes branch and are joined to one another via intercalated discs
abnormal b-1 b cell morphology any structural anomaly of the subset of B cells found predominantly in the peritoneum, pleural cavities, and spleen, and are enriched for self-reactivity; B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas
dysmetria A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
regional gastric metaplasia localized areas of the stomach in which there is a change from one adult cell type to another adult cell type
abnormal neutrophil cell number A deviation from the normal range of neutrophil cell counts in the circulation.
abnormal blastocyst morphology any structural anomaly of the preimplantation embryo of mammals consisting of a hollow sphere of cells with an outer cell layer (trophoblast) that forms the placenta, a fluid-filled cavity (blastocoele), and a cluster of cells on the interior (the inner cell mass) that forms the embryo
abnormal keratinocyte migration anomaly in the movement of keratinocyes or their precursors to the appropriate location in the body
abnormal cell nucleus morphology any structural anomaly of a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated; in most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing, but in some species, or in specialized cell types, RNA metabolism or DNA replication may be absent
abnormal interleukin-1 beta secretion anomaly in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane
abnormal visual evoked potential An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.
abnormal circulating interleukin-12 level anomaly in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells
renal glomerulus hypertrophy increase in the bulk size of the capillary loops of the kidney that normally function as a filtration unit, due to cell enlargement
abnormal aorta smooth muscle morphology any structural anomaly of the nonstriated, involuntary muscle tissue located in the wall of the aorta
abnormal gonadal fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the ovaries or testes
decreased interleukin-1 beta secretion reduction in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane
abnormal vascular permeability anomaly in the ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases
cocaine preference predilection to ingest cocaine over other substances
failure of tooth eruption inability of the teeth to grow into the oral cavity
abnormal nasal septum morphology any structural anomaly of the structure that separates the two nasal cavities
abnormal sphenoid bone morphology any structural anomaly of the irregularly shaped bone of the base of the skull
abnormal selenium level any anomaly in the concentration of selenium, which is required for glutathione peroxidase and other enzymes
abnormal olfactory bulb internal plexiform layer morphology
decreased creatinine clearance
abnormal hearing electrophysiology anomaly in auditory function as it relates to electrical phenomena
gastric necrosis morphological changes resulting from pathological death of gastric tissue; usually due to irreversible damage
loss of cortex neurons loss of neurons in the cortex region of the brain, commonly due to an apoptotic event
increased ovary weight greater average weight of the female reproductive gland containing the germ cells
small forelimb buds reduced size of the limb bud that normally develops into a forelimb (usually the arm or front limb in mammalian species)
abnormal cutaneous/subcutaneous mechanoreceptor morphology any structural anomaly of the neuronal receptors that respond to mechanical pressure or distortion in the skin
abnormal somatosensory cortex morphology any structural anomaly of the area of the parietal lobe that lies posterior to the central sulcus and is concerned with receiving and processing general sensations from the body surface
decreased aorta wall thickness decreased depth of the part of the aorta that encloses the luminal space
pulmonary vascular congestion obstruction of the normal flux of blood within the blood vessel network of the lung resulting in engorgement of pulmonary vessels; frequently precedes pulmonary edema
inner ear hypoplasia underdevelopment or reduced size of inner ear structures, usually due to decreased cell number
altered susceptibility to infection induced morbidity/mortality differences from the expected moribund state caused by a pathogenic invasion or from components of or toxins produced by pathogens
absent forebrain absence of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions)
abnormal pancreatic beta cell physiology anomaly in the function of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas
abnormal interventricular septum thickness an anomaly in the thickness of the wall between the two lower chambers of the heart compared to the control
abnormal fibroblast migration any anomaly of fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium
absent duvet hair absence of the of the fine under hair of the coat
abnormal lung morphology any structural anomaly of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs
abnormal kidney pelvis urothelium morphology any structural anomaly of the epithelial lining of the luminal space of the kidney pelvis
abnormal respiratory motile cilium morphology Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms.
absent bone trabeculae absence of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force
absent mesangial cell absence of the phagocytic cells in the capillary tuft of the renal glomerulus, normally interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft
premature death death after weaning age, but before the normal life span (Mus: after 3 weeks of age)
increased cd8-positive, alpha-beta t cell number greater number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions
decreased alcohol consumption less than normal consumption of alcohol
increased single-positive t cell number greater number of T cells bearing either CD4 or CD8 markers on their surface
pancreatic acinar hyperplasia overdevelopment or increased size of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced, usually due to an increased cell number
abnormal interleukin-1 alpha secretion anomaly in the production or release of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active
narrow head a shorter ear- to -ear distance resulting in the appearance of a thin face and a protruding nasal region
abnormal single-positive t cell number anomaly in the number of T cells bearing either CD4-positive or CD8-positive markers on their surface
abnormal glomerular endothelium fenestra morphology any structural anomaly of the large plasma membrane-lined circular pores that perforate the flattened glomerular endothelium and, unlike those of other fenestrated capillaries, are not spanned by diaphragms; the density and size of glomerular fenestrae account, at least in part, for the high permeability of the glomerular capillary wall to water and small solutes
vomer bone hypoplasia underdevelopment of the vomer bone, usually due to a deficiency in the number of cells
abnormal hepatic cord morphology any structural anomaly of the three-dimensional arrangement formed by plates of hepatocytes, usually one cell thick, that radiates from the center of the liver lobule; hepatic laminae are highly branched, irregular structures bordered by endothelial lined vascular spaces called hepatic sinusoids
abnormal immune system morphology any structural anomaly in the organs or cells associated with the development and formation of lymphocytes
abnormal fornicate gyrus morphology any structural anomaly of the horseshoe-shaped gyrus of the cerebral cortex that consists of the cingulate gyrus and the parahippocampal gyrus
increased pancreatic beta cell proliferation increase in the ability of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas to undergo expansion by cell division
abnormal corneal stroma morphology any structural anomaly of the lamellated connective tissue of the cornea between the Bowman and Descemet membranes
abnormal nmda-mediated synaptic currents change in the measured amplitude, current density or duration of response to stimulation of NMDA receptors
abnormal nk cell physiology
absent mast cells any structural anomaly of a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation; progenitors leave bone marrow and mature in connective and mucosal tissue; mature mast cells are found in all tissues, except the bloodstream.
axonal spheroids focal 10-50 micron diameter swellings of axons, which are sometimes, but not always, terminal endbulbs, and are filled with disorganized neurofilaments, tubules, organelles or multi-lamellar inclusions
ovotestis A hermaphrodite gonad (as in some scale insects).
abnormal respiratory transport anomaly in the process of gas exchange
spinal cord degeneration a retrogressive impairment of function or destruction of the spinal cord
pericardial edema accumulation of watery fluid in the pericardial sac of the heart
decreased urine calcium level
enlarged ileum increased size of the portion of the small intestine that extends from the jejunum to the colon
abnormal frequency of paradoxical sleep abnormal incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity
abnormal t cell clonal deletion a defect in the process of removal of immature T lymphocytes that interact with self antigens during maturation
abnormal kidney interlobular artery morphology any structural anomaly of the branches of the arcuate arteries of the kidney that radiate outward throught the renal columns and supply the glomeruli
abnormal circulating aspartate transaminase level any anomaly in the concentration in the blood of the enzyme which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid
abnormal circadian period any change in the cycle length expressed when exposed to constant conditions without temporal cues
absent palatine bone absence of either of two irregularly L-shaped bones located posterior to the maxilla that in part forms the back of the hard palate, part of the nasal cavity and part of the floor of the orbits
abnormal cell adhesion altered ability of a cell to adhere to another cell or to a non-cellular component of the environment
abnormal epidermal lamellar body morphology any structural anomaly of a membrane-bounded organelle present in the epidermis, specialized for the storage and secretion of various substances (such as glycoproteins and acid phosphates), and which are arranged in the form of tightly packed, concentric, membrane sheets or lamellae
decreased white fat cell number reduction in the number of fat cells with light coloration and few mitochondria
abnormal vestibular hair cell stereociliary bundle morphology any structural anomaly or disruption of the typical staircase-like arrangement of the mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of vestibular hair cells of the utricle and saccule
abnormal hair follicle regression abnormal length of time for the onset of catagen phase of the cyclic transformation of the hair follicle
short sternum Decreased inferosuperior length of the sternum.
decreased cardiac neural crest cell number reduction in the number of cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs migrate to the circumpharyngeal ridge and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT), and contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia
abnormal dopamine level greater or less than the normal amount of this catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary
abnormal ureteropelvic junction morphology any structural anomaly of the junction between the ureter and the renal pelvis of the kidney
abnormal respiratory conducting tube morphology any structural anomaly of the tubes of the respiratory system that allow passage of air from the trachea to the terminal bronchioles
dilated renal tubules stretched or widened aperture of the luminal space of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule
increased fibrosarcoma incidence greater than the expected number of a highly aggressive malignant neoplasm arising from fibrous connective tissue, in a specific population in a given time period
complete postnatal lethality premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)
impaired ossification of basisphenoid bone anomaly in the formation of the bone at the base of the sphenoid bone; arises from an ossification center independent of the remainder of the sphenoid bone
abnormal vibrissa number any anomaly in the number of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors
absent cardiac desmosomes absence of one type of membrane junctions found within the intercalated discs that provide mechanical integrity and prevent separation of adjacent cells during contraction of cardiac tissue
small adrenal glands Developmental hypoplasia of the adrenal glands.
increased urine selenium level greater than normal amount of selenium in the urine
seminiferous tubule degeneration a retrogressive impairment of function or destruction of the tubules in the testes where spermatogenesis occurs
impaired muscle regeneration inability, defects in ability or delayed ability to repair muscle after injury or disease
impaired sperm capacitation reduced ability or inability to undergo the changes in spermatozoa in the female genital tract that enables them to penetrate and fertilize an egg
meibomian gland hypertrophy increase in the bulk size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate due to cell enlargement
abnormal vertical activity altered ability or desire to jump or rear
small zygomatic bone reduced size of the quadrilateral bone that forms the prominence of the cheek
abnormal myocardial trabeculae morphology any structural anomaly of the supporting bundles of muscular fibers lining the walls of the heart
overlapping parietal bones parietal bones of the skull partly coincide instead of articulating
abnormal spinal cord commissure morphology any structural anomaly of any of the nerve fiber tracts that span the midline of the spinal cord
ear telangiectases vascular lesion formed by dilation of a group of small blood vessels in the ear
abnormal carpal bone morphology any structural anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands consisting of the scapholunar, triangular, greater multiangular, lesser multiangular, capitate, hamate, centrale and the sesamoids
absent trophoblast giant cells missing cells of the extraembryonic cell layer that contribute to the placenta
abnormal maxillary shelf morphology any structural anomaly of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate
enlarged floor plate increased size of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube
decreased corticotroph cell size reduced growth or small size of an anterior pituitary basophilic cell that produces adrenocorticotrophic hormone (ACTH)
abnormal intercellular signaling peptide or protein level abnormal concentration of any regulatory protein or peptide that is a signaling molecule involved in the process of paracrine communication
abnormal prostate gland anterior lobe morphology any structural anomaly of the rodent prostate lobe that appears as a thin tubular structure, attached to the lesser curvature of the paired seminal vesicles
abnormal foramen magnum morphology any structural anomaly of the large orifice in the occipital bone through which the spinal cord passes to the cranial cavity and becomes continuous with the medulla oblongata
failure of embryo implantation inability of the blastocyst and/or the uterine environment to successfully synchronize allowing attachment of the blastocyst to the epithelial lining of the uterus, its penetration through the epithelium and any subsequent physiological interactions necessary to sustain embryonic development
increased systemic arterial diastolic blood pressure abnormal increase in the pressure in the arteries between heart beats when the heart is relaxed
abnormal response to novel object altered behavioral reaction associated with exposing an animal to a novel object
absent frontonasal prominence absence of the unpaired embryonic prominence that is formed by the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout
abnormal renal water homeostasis any anomaly in the kidney processes involved in the maintenance of an internal steady state of water in the body
increased urinary bladder weight greater than average weight of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys compared to controls
left pulmonary isomerism anomaly in the asymmetry of the lung such that the lobes on both the left and right side have the morphology normally seen on the left side of the body
abnormal stomach pyloric region morphology any structural anomaly of the stomach tissue region surrounding and controlling the distal outlet of the stomach, which opens into the duodenum
abnormal rete testis morphology any structural anomaly of the network of canals at the termination of the straight tubules in the mediastinum testis
increased osteoid thickness increase in the width of the layer of newly formed organic bone matrix secreted by osteoblasts
hemoperitoneum Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.
decreased respiratory motile cilia number reduced number of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract
small pharyngeal arch reduced size of one or more of the branchial arches
abnormal cerebellum deep nucleus morphology any structural anomaly of the gray matter nuclei located in the center of the cerebellum, embedded in the white matter, which receive inhibitory (GABAergic) inputs from Purkinje cells in the cerebellar cortex and excitatory (glutamatergic) inputs from mossy fiber pathways; all output fibers of the cerebellum originate from the these nuclei
abnormal circulating interferon-alpha level anomaly in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells
increased salivary gland tumor incidence greater than the expected number of neoplams in the salivary gland occurring in a specific population in a given time period
abnormal circulating osteocalcin level aberrant concentration in the blood of this hormone secreted by osteoblasts which are found in bone and dentin
increased circulating antidiuretic hormone level greater than the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle
decreased circulating interleukin-17 level reduction in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors
abnormal olfactory bulb interneuron morphology any structural anomaly of the group of neurons residing in the olfactory bulb that serve to process and refine signals arising from olfactory sensory neurons
increased circulating aldosterone level
hydroencephaly
abnormal pancreas physiology any functional anomaly of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream
abnormal embryo size any anomaly in the proportions of embryo compared to littermates (sensu Mus: up to E14, or the completion of organogenesis)
abnormal fetal cardiomyocyte morphology any structural anomaly of fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes
genetic imprinting Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules by a mechanism that is mediated by DNA, is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA sequence.
abnormal palate development abnormal formation of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate)
abnormal muscle physiology any functional anomaly of the muscle, not due to an anatomical defect
decreased circulating interferon-beta level reduction in the amount in the blood of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity
reduced kindling response fewer epileptogenic changes normally induced by daily sub threshold electrical brain stimulation
abnormal notochord morphology any structural anomaly of the axial fibrocellular cord in embryos around which develops the vertebral primordia
abnormal anterior uvea morphology any structural anomaly of any of the parts of the front, or ventral, portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris
prolonged st segment increase in the length of time between the end of S-wave and the beginning of T-wave; reflects the amount of time the ventricles remain electrically depolarized
abnormal hematopoietic stem cell morphology any structural anomaly or number of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages
increased circulating unsaturated transferrin level increase in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test
camptodactyly The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
enlarged hair follicle melanin granules increased size of the pigment particles located in the hair follicle
hemosiderinuria The presence of hemosiderin in the urine.
decreased cervical vertebrae number reduced number of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull
abnormal synapse morphology any structural anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means
reversion by mitotic recombination cross-over event between sequences containing mutant and wild-type alleles during DNA replication in a heterozygote resulting in cells with two wild-type alleles
accumulation of giant lysosomes in kidney/renal tubule cells buildup of contents in lysosomes in cells of the kidney tubules
decreased mean platelet volume Average platelet volume below the lower limit of the normal reference interval.
abnormal rib morphology any structural anomaly of the bones forming the bony wall of the chest
abnormal viscerocranium morphology any structural anomaly of the part of the skull that comprises the facial bones
abnormal biopterin level anomaly in the concentration of this pterin found in yeast, the fruit fly and in normal human urine, the reduced form of which acts as a coenzyme for many enzymatic reactions
acanthosis
abnormal ventral spinal root morphology any structural anomaly of the anterior bundle of nerves emerging from the spinal cord to join with the posterior/dorsal nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves
abnormal t cell differentiation atypical production of or inability to produce mature T cells, and/or accumulation of T cell precursors
epididymal cyst benign growths present in the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens
small penis Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
abnormal sinus arrhythmia any anomaly in the normal phenomenon of mild acceleration and slowing of the heart rate that occurs during the respiratory cycle
colorless urine absence of the usual straw-coloration of the urine
increased compensatory feeding amount increased amount of food consumed after a period of fasting
decreased lymphocyte cell number fewer than normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells
decreased spinal cord ventral horn cell number fewer than the expected number of cells in the ventral grey column of the spinal cord
abnormal body fat mass aberrant fat-containing physical bulk or volume of the body
abnormal glutathione level anomaly in the amount of a tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine
fragmentation of sleep/wake states short bouts of sleep/wake stages with an increased number of transitions among these stages compared to controls
abnormal white fat cell differentation abnormal or arrest of differentiation of fat cells with light coloration and few mitochondria; these contain a scant ring of cytoplasm surrounding a single large lipid droplet or vacuole
abnormal uterine cervix epithelium morphology any structural anomaly of the epithelial layer of the cervix
abnormal transitional stage t2 b cell morphology any structural anomaly of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles
vesicoureteral reflux A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.
abnormal large intestinal transit time increase or decrease in the time it takes for a bolus of material to pass through the large intestine
increased renin activity greater than the normal ability of this enzyme to cleave angiotensionogen and create angiotensin I
hypoactivity in response to feed restriction decreased activity after restriction of food
abnormal heart right ventricle weight anomaly in the average weight of the right ventricle compared to the control
abnormal hepatoblast differentiation developmental anomaly or inability of hepatoblasts to differentiate into hepatocytes and cholangiocytes
abnormal orbitosphenoid bone morphology any structural anomaly of the bone that is situated in the orbit on either side of the presphenoid; it generally forms a part of the sphenoid in the adult, and may be independent in the young
increased subcutaneous adipose tissue amount increase in amount of adipose tissue beneath the skin
pulmonary alveolar hemorrhage bleeding into the small sac-like dilations of the distal airspace of the lung
abnormal hair cortex morphology any structural anomaly in the spindle shaped cells of the hair shaft that contains keratin fibrils and matrix
abnormal radial glial cell morphology any structural anomaly of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult
decreased chemically-elicited antinociception less than the normal analgesic effect of chemical substances
absent parietal endoderm absence of the primitive endoderm-derived tissue that lines the luminal surface of the mural trophectoderm
abnormal nodose ganglion morphology any structural anomaly of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve)
increased tibialis anterior weight increase in the weight of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot
enophthalmos
testis inflammation
optic nerve hypoplasia Underdevelopment of the optic nerve.
absent nk cells absence of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells
diffuse hepatic necrosis morphological changes resulting from disseminated pathological death of some or all liver tissue; usually due to irreversible damage
improved glucose tolerance better than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin sensitivity; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals
abnormal superovulation altered ability of a female to be induced to ovulate an expected number of ova after treatment with specific gonadotrophic hormones
abnormal testis morphology any structural anomaly of the male reproductive glands
thick tail a tail with a greater diameter than normal
absent acrosome mature spermatozoa lack the cap-like structure at the anterior end of the sperm head that produces enzymes needed for egg penetration
abnormal bone marrow morphology any structural anomaly of the soft tissue that fills the cavities of bones
abnormal hassall's corpuscle morphology any structural anomaly of the small spherical bodies of epithelial cells found in the medulla of the thymus, that are arranged in a concentric pattern around clusters of degenerating lymphocytes, eosinophils and macrophages
abnormal sebocyte number any deviation from the normal numbers of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation
decreased incidence of induced tumors reduced frequency of tumor incidence induced by a carcinogen, mutagen or virus
duplex kidney a kidney that is split into two separate collecting systems; there may be a duplex ureter or a single ureter; may present unilaterally or bilaterally
calcified thoracic aorta
coronary-cameral fistula to right ventricle an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle
abnormal leukocyte physiology any functional anomaly of any of the white blood cells (basophils, eosinophils, neutrophils, lymphocytes, or monocytes)
abnormal joint capsule morphology any structural anomaly of the sac or its contents that encloses the articulating ends of bones participating in a synovial joint
abnormal fetal derived definitive erythrocyte morphology any structural anomaly of a fetal liver derived enucleated erythrocyte, which matures in macrophage islands within the liver, enucleates, and then enters the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins
abnormal susceptibility to weight loss anomaly in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction
abnormal taste bud morphology any structural anomaly of the small sensory organs located in the tongue that contain gustatory receptor cells, basal cells, and supporting cells
intracranial hemorrhage Hemorrhage occurring within the skull.
enlarged prostate gland increased size of the gland in males that secretes part of the seminiferous fluid
abnormal cd8-positive, alpha beta t cell morphology any structural anomaly of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions
abnormal cholangiocyte morphology any structural anomaly of the epithelial cells of the bile duct that have primary cilia extending from their apical membrane into the ductal lumen; cholangiocytes are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts
abnormal fear-related response altered emotional response related to anticipation of specific pain or danger
abnormal retinal pigment epithelium morphology any structural anomaly in the epithelial layer of the retina composed of cells containing pigment granules
abnormal retina inner limiting membrane morphology any structural anomaly of the row of fused Muller cell processes and astrocytes that separates the retinal nerve fiber layer from the vitreous
abnormal dendritic spine morphology any structural anomaly of the small membranous protrusion from the dendrite of a neuron that is involved in synaptic transmission; it typically receives input from a single synapse of an axon
mitral valve stenosis A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart.
abnormal tricarboxylic acid cycle any anomaly in the universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes; the acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle
decreased synaptic glutamate release reduced secretion across synapses of the major excitatory neurotransmitter of the central nervous system (CNS), which acts through both ligand gated ion channels (ionotropic receptors) and G protein-coupled (metabotropic) receptors
intestine polyps
abnormal urine glycosaminoglycan level any change in the amount of glycosaminoglycan in the urine, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit
decreased type i pneumocyte number reduced number of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange
decreased guard hair length reduction in the length of the long, straight truncal hairs that contain two air cells in the medulla
pale placenta placenta lacking normal reddish coloration, often refers to bloodless condition
abnormal vestibular endolymph change in the normal production (volume) or ionic homeostasis of the fluid contained within the vestibule of the inner ear; unlike cochlear endolymph this fluid does not have a high potential
abnormal myelopoiesis anomaly in the process of, or atypical formation of myeloid cells from the pluripotent hematopoietic stem cells in the bone marrow from myeloid stem cells, including the production of leukocytes in blood, such as monocytes and granulocytes and precursor cells for macrophage and dendritic cells found in the lymphoid tissue
abnormal epiphyseal plate morphology any structural anomaly of the cartilaginous center of ossification on the bones permitting growth of the bone in both directions during development
decreased tegmentum size reduced size of the floor of the midbrain which extends from the substantia nigra to the level of the cerebral aqueduct
abnormal cranial neural crest cell proliferation any anomaly in the ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division
cachexia Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
aortic arch coarctation a congenital focal constriction of the aortic arch
decreased apoptosis less than normal cell death
abnormal ilium morphology any structural anomaly of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis
abnormal alisphenoid bone morphology any structural anomaly of either of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young
vascular restenosis recurrence of a narrowing or constriction of a blood vessel following surgical or mechanical removal or reduction of a previous narrowing
decreased marginal zone b cell number reduced number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL
abnormal prenatal body size anomaly in the average body weight, height and/or length of an organism compared to controls at anytime prior to birth
male pseudohermaphroditism Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.
abnormal iris stromal pigmentation any anomaly in the coloring of the framework of the iris
abnormal bone strength change in the ability of bone to endure the application of force without yielding or breaking
abnormal hallux morphology any structural anomaly of the first or primary digit of the foot
abnormal startle reflex aberrant threshold or reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch
decreased immunoglobulin level less than normal immunoglobulin level
absent gamma-delta t cells absence of immature or mature T cells expressing an gamma-delta T cell receptor complex
absent teeth absence of some or all of the bony structures of the upper and lower jaws used in mastication
abnormal parasympathetic system morphology any structural anomaly of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and generally acts to conserve resources and restore homeostasis, often with effects reciprocal to the sympathetic nervous system
increased melanoma incidence greater than the expected number of malignant neoplasms, derived from melanocytes and occurring in pigmented tissues, in a specific population in a given time period
abnormal respiratory motile cilium physiology Any functional anomaly of the respiratory motile cilia.
decreased circulating ldl cholesterol level reduced amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions
absent fibula absence of the lateral and shorter of the two bones of the lower leg
abnormal eye blink conditioning behavior anomaly in the ability of an animal to learn to blink in anticipation of an aversive stimulus (e.g., an air puff to the eyelid) following repeated pairings with a neutral stimulus (e.g., a tone); such learning is only adaptive if the animal is able to learn the precise timing between the conditioned and unconditioned stimuli
impaired branching involved in alveolar sac morphogenesis partial or complete failure of the process in which the terminal alveolar sacs are generated
abnormal qt variability anomaly in the index of beat-to-beat QT interval fluctuations (temporal QT interval variability), normally expressed as a unitless negative number reflecting beat-to-beat changes in ventricular repolarization; an increased, positive QTVI number indicates significant repolarization abnormalities
calcified artery
abnormal proximal convoluted tubule morphology any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes; the most distinctive characteristic of the proximal tubule is its brush border (or striated border), not found in the distal convoluted tubule
paralysis Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.
absent primitive endoderm absence of the transient thin monolayer of cuboidal cells that comprise the lower layer of the bilaminar embryonic disk; the hypoblast cells contribute to several extraembryonic structures, but do not contribute to the embryo
decreased transitional stage t3 b cell number reduced number of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive, surface IgD-positive, CD21-positive, CD23-positive, and CD62L-positive
abnormal olfactory bulb granule cell layer morphology
increased chemically-elicited antinociception greater than the normal analgesic effect of chemical substances
abnormal neuroendocrine cell morphology any structural anomaly of a neuron that has the specialized function to produce and secrete hormones, contains neruosecretory granules, and that constitutes, in whole or in part, an endocrine organ or system
partial perinatal lethality the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)
meibomian gland hypoplasia underdevelopment or reduced size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate, usually due to a reduced number of cells
failure of morula compaction inability to initiate or maintain the first cell differentiation event in mammalian development, occurring at the late eight-cell stage in the mouse, whereby cells on the outer part of the morula become flattened and bound tightly together with the formation of desmosomes and gap junctions, becoming nearly indistinguishable
arrest of spermiogenesis block in the process by which a spermatid transforms into a functional spermatozoon
impaired osteoblast differentiation reduced ability or inability to produce skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell
decreased circulating estrogen level reduction in the blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics
increased angiotensin i-converting enzyme activity greater activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin
decreased cochlear coiling a reduction in cochlear coiling or number of turns; in wild-type mice, the cochlea most commonly exhibits one and three-fourth turns
abnormal dendritic cell differentiation atypical production of or inability to produce a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation
thin endoderm reduced thickness of the innermost germ layer of the embryo
abnormal cystic duct morphology any structural anomaly of the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct
abnormal prostate gland morphology any structural anomaly of the gland in males that secretes part of the seminiferous fluid
abnormal nipple development an anomaly in the differentiation of the apex of the mammary gland on the integument surface into which the lactiferous ducts open
demyelination A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
increased lung endothelial cell apoptosis acceleration in the timing or in the number of endothelial cells in the pulmonary vasculature to undergoing programmed cell death
thin uterine horn reduced thickness of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet
absent wolffian ducts absence of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male
thin uterus reduced thickness or depth of the female muscular organ of gestation
decreased renal glomerulus basement membrane thickness reduced width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule
decreased mammary fat pad weight less than average weight of the encapsulated adipose tissue associated with the mammary gland
abnormal cochlear hair cell development atypical initial production, differentiation, migration or maturation of the sensory epithelial cells of the cochlea
increased sensory neuron number greater than normal numbers of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses
absent telencephalon absence of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures
decreased pancreatic alpha cell number reduction in the number of the cells of the pancreas that secrete glucagon
increased parametrial fat pad weight greater than average weight of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament
ileum hypertrophy an increase in the bulk size of the portion of the small intestine that extends from the jejunum to the colon due to cell enlargement
hypopnea breathing that is shallower and/or slower than normal
abnormal sterol level anomaly in the level of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated
abnormal immunoglobulin light chain v-j recombination any anomaly in the process by which V and J gene segments of the immunoglobulin light chain are recombined
abnormal mammillary body morphology any structural anomaly of the protrusion at the posterior end of the hypothalamus that contains hypothalamic nuclei
uterus atresia congenital absence of the normal opening or lumen of the uterus
diarrhea A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea.
absent startle reflex failure to respond to variable stimuli, often auditory; usually measured by amplitude of whole body flinch
ventricular hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of one or both of the two lower chambers of the heart
abnormal t-helper 1 cell number anomaly in the number of the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity
macrophthalmia increased average size of the eyes
decreased circulating sodium level
enhanced osteoblast differentiation increased ability or increased rate of production of skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell
abnormal latent inhibition of conditioning behavior anomaly in the impairment in a conditioned response seen after repeated unpaired presentations of the conditioned stimulus prior to pairing it with the unconditioned stimulus
plush coat coat has a thick, velvet-like appearance
decreased aggression towards males when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards male mice
abnormal lung vasculature morphology any structural anomaly of the blood vessels of the lung
detached reissner membrane partial or complete loss of connection between the membrane and the stria vascularis, the periosteum covering the lamina spiralis ossea, or both
interparietal bone hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in the bone of the cranium that lies above and anterior to the occipital bone in some mammals
abnormal short term spatial reference memory anomaly in the short-term memory for spatial location information that is established during the first few minutes after training or an encounter at that location
absent tubuloglomerular feedback response absence of the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa
absent common crus absence of the united, nonampullary ends of the superior and posterior semicircular ducts in the inner ear
abnormal igm level deviation from the normal levels of immunoglobulin class M level
muscle fatigue An abnormal, increased fatiguability of the musculature.
increased pulmonary artery pressure An abnormally elevated blood pressure in the circulation of the pulmonary artery.
absent distal visceral endoderm absence of the precursors of the anterior visceral endoderm that arises at the distal tip of the embryo
increased circulating lactate level greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase
uterus hypoplasia
ureter stenosis abnormal narrowing or constriction of the ureter
increased urine urea nitrogen level abnormally high amounts of nitrogen in the form of urea in the urine
abnormal lateral corticospinal tract morphology any structural anomaly of the large bundle of corticospinal motor fibers that cross the midline at the pyramidal decussation and descend in the dorsal half of the lateral funiculus; the lateral corticospinal tract controls movement of contralateral limbs
abnormal cerebellum fissure morphology any structural anomaly of the deep furrows which divide the lobules of the cerebellum, including the postcentral, primary and secondary furrows
abnormal rhombomere 6 morphology any structural anomaly of the sixth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order
embryogenesis phenotype
primary atelectasis nonexpansion of the lungs after birth, seen in stillborn organisms and in live born animals that do not establish respiration
abnormal epigenetic regulation of gene expression any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA sequence
prolonged proestrus increase in the length of the proestrous phase of the estrous cycle in female animals
embryonic lethality before implantation death anytime between fertilization and implantation (Mus: E0 to less than E4.5)
trophectoderm cell degeneration a retrogressive impairment of function or destruction of trophectoderm cells
abnormal cell cycle failure to progress or abnormal progression through the stages of the cell cycle
abnormal zinc homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of zinc that normally is a cofactor in many proteins
abnormal cd4-positive, alpha-beta intraepithelial t cell morphology any structural anomaly of a CD4-positive, alpha-beta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements
skeletal muscle hypotrophy decrease in the bulk size of the skeletal muscle due to cell shrinkage
thyroid gland hyperplasia
abnormal vestibular hair cell development atypical initial production, differentiation, migration or maturation of hair cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the inner ear
abnormal sympathetic ganglion morphology any structural anomaly of the ganglia of the sympathetic nervous system including the paravertebral and the prevertebral ganglia, which include the sympathetic chain ganglia, the superior, middle, and inferior cervical ganglia, and the aorticorenal, celiac, and stellate ganglia
decreased mitotic index decreased number of cells in G2/M phase
increased embryonic neuroepithelium apoptosis increase in the number of cells of the embryonic neuroepithelium undergoing programmed cell death
increased cerebral infarction size increased size of necrotic area of the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply
altered susceptibility to prion infection altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is a major and necessary component
abnormal extraembryonic mesoderm development malformation of the mesoderm of the extraembryonic tissue that is involved in forming the amnion, chorion, yolk sac, and body stalk
eyelid edema Edema in the region of the eyelids.
polyphagia A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
abnormal spiral ligament morphology any structural anomaly in the thickened periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches
increased interleukin-4 secretion increase in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells
dilated cochlea the luminal space of the cochlea is increased in volume or area, usually with an increase in contained fluid
disorganized extraembryonic tissue a lack of the regular arrangement of the membranes involved with the embryo's protection and nutrition
poikilocytosis The presence of abnormally shaped erythrocytes.
abnormal b cell physiology any functional anomaly of lymphocytes that expresses membrane-bound antibody, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens
yellow coat color amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is maximally increased in agouti hair
increased cell proliferation increase in the expansion rate of a cell population by cell division
abnormal muscle morphology any structural anomaly of the contractile tissue that produces movement in animals
increased kidney weight greater weight of the organs responsible for urine secretion
abnormal globus pallidus morphology any structural anomaly of one of the basal ganglia involved with control of voluntary movement in the brain; consists of an external and an internal segment
decreased femoral fat pad weight less than average weight of the encapsulated adipose tissue associated with the femur
abnormal amniotic cavity morphology any structural anomaly of the closed space between the embryo and the amnion, containing the amniotic fluid; it is formed by the fusion of the parts of the anterior and posterior amniotic folds
esophagus hypoplasia underdevelopment or decreased size of the esophagus, usually due a reduced number of cells
abnormal long bone epiphyseal plate morphology any structural anomaly of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles
abnormal choroid melanin granule morphology any structural anomaly of the pigment particles in the choroid
increased circulating sodium level
abnormal vertebral body morphology any structural anomaly of the main cylindrical portion of the vertebra ventral to the vertebral canal
small notochord reduced size of the axial fibrocellular cord in embryos around which develops the vertebral primordia
thickened long bone epiphysis wider than normal rounded end of a long bone
abnormal portal triad morphology any structural anomaly of the three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel
increased lung elastance faster ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance
absent frontal bone absence of the bone forming the forehead and roof of the eye orbit
abnormal kidney size anomalous physical bulk one or both of the organs responsible for urine secretion
decreased thoracic vertebrae number reduced number of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae
thick diaphragm muscle increased thickness of the diaphragm muscle
abnormal neuron specification defects in the developmental patterning of neurons resulting in ectopic placement, decreased numbers or absence of mature neurons
abnormal pharyngeal pouch morphology any structural anomaly of the balloonlike diverticulae of the embryonic pharyngeal endoderm that line the inside of the branchial arches; these paired endodermal evaginations develop in a craniocaudal sequence between the branchial arches, e.g. pouch 1 lies between arches 1 and 2; in mammals, there are four well-developed pairs of pouches (the fifth and sixth pair is vestigial or absent); the pouch endoderm reaches the branchial groove ectoderm to form the double-layer branchial membranes that separate them
ectopic testis one or both of the testes located outside the normal pathway of descent into the scrotum
spinal hemorrhage bleeding into the spine
absent incus absence of the middle of the three auditory ossicles
abnormal physiological response to xenobiotic any anomaly in the physiological or morphological changes induced by a foreign compound, such as changes in blood pressure, changes in hormone or protein levels or hypertrophy or hypotrophy of an organ
abnormal thymus cell ratio deviation from the standard ratios of thymocyte subpopulations compared to control samples
abnormal bile color any change in the color of the bile from the normal yellowish brown or green
abnormal mandibular prominence morphology any structural anomaly of the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip
abnormal cd4-positive, alpha-beta memory t cell morphology any structural anomaly of a CD4-positive, alpha-beta long-lived T cell with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high
abnormal cochlear labyrinth morphology any structural anomaly in the portion of the membranous labyrinth concerned with the sense of hearing (vs. the vestibular labyrinth, which is concerned with the sense of equilibration) and innervated by the cochlear nerve; it is located within the cochlea of the bony labyrinth, and consists of the cochlear duct, which contains the spiral organ
persistent truncus arteriosis
abnormal reflex anomaly in an involuntary response to a peripheral stimulus
hyperresponsive to tactile stimuli exaggerated reflex action normally induced by touch or pain
atrioventricular septal defect A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.
abnormal brain dura mater morphology any structural anomaly of the fibrous membrane forming the outer of the three coverings that surrounds the brain within the cranial cavity; consists of two layers including the periosteal layer and the meningeal layer
abnormal primary cilium morphology any structural anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors
increased pancreatic acinar cell number increased number of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes
increased retinal cone cell number greater number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment
increased cellular sensitivity to ultraviolet irradiation greater incidence of cell death following exposure to ultraviolet irradiation
decreased male germ cell number reduced numbers of male germ cells whether they are undifferentiated or fully differentiated
absent internal female genitalia absence of the internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina
abnormal skeletal muscle regeneration anomaly in the ability to repair skeletal muscle after injury or disease
shortened head
abnormal orientation of cochlear hair cell stereociliary bundles misorientation or rotation of inner and/or outer hair cell stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium
decreased mean corpuscular hemoglobin less than the average levels of hemoglobin contained in an erythrocyte
extended life span persistence of life for a longer period than is normal for an organism
abnormal timing of vaginal opening anomaly in the age of the opening of the genital canal in a female compared to the control
decreased circulating vldl triglyceride level lower than average concentration in the blood of very low density lipoprotein, which normally transports triglycerides from the intestine and liver to muscle and adipose tissue
abnormal respiratory motile cilium number anomaly in the number of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract
increased teratoma incidence higher than normal incidence of generally benign germ cell-derived tumors of male or female containing derivatives from all three germ layers with differentiation in the malignant form being poor; malignant tumors are highly metatstatic
retrognathia An abnormality in which the mandible is mislocalised posteriorly.
abnormal enamel knot morphology any structural anomaly of a transient cluster of cells in the central part of the dental epithelium facing the dental mesenchyme, which acts as an organizing center, providing positional information for tooth morphogenesis and regulating the growth of tooth cusps
pale spleen spleen lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition
absent midbrain-hindbrain boundary absence of the midbrain-hindbrain domain of the embryonic brain that is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; normally, an organizing center located at the boundary patterns the midbrain and hindbrain primordia of the neural plate
abnormal synaptic vesicle recycling any functional anomaly in the process of the fusion of a subpopulation of synaptic vesicles with the cell membrane at the active zone, the subsequent endocytosis back from the plasma membrane, the refilling of these vesicles with neurotransmitters, and trafficking back to the active zone pool of vesicles
increased cellular sensitivity to hydrogen peroxide greater incidence of cell death following exposure to hydrogen peroxide
increased schwann cell number greater than normal number of cells that sheath the axons of the peripheral nervous system
abnormal regulatory t cell physiology any functional anomaly of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity; these may include T cells that express the CD8 transmembrane glycoprotein (CD8-positive T cells), those that express CD4 and CD25 (CD4-positive, CD25-positive regulatory T cells or Tregs) and other T cell types that have suppressor function
stomach hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the stomach
premature endochondral bone ossification early onset of bone formation in bones that form from cartilage
abnormal hemostasis any anomaly in the spontaneous arrest of bleeding from vessels carrying blood under pressure or the arrest of circulation to an organ or part
increased gland tumor incidence greater than the expected number of tumors originating in a gland in a given population in a given time period
abnormal lipoprotein lipase activity anomaly in the ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate
abnormal fluid intake significant anomaly in the total amount of fluid taken in over time when compared to the normal state
absent clitoral bone absence of the unique bone located in the clitoris of most mammals except humans
decreased inguinal fat pad weight less than average weight of the encapsulated adipose tissue found in the groin
lateral prostate gland hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in the lateral lobe of the prostate
hypochromic macrocytic anemia hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is larger than normal
enlarged allantois increased size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels
hypoalgesia decreased sensitivity to painful stimuli; can be due to chemical intervention, neuropathies or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area)
absent efferent ductules of testis absence of the small seminal ducts that lead from the testis to the head of the epididymis
limb grasping mice clasp front and/or hind feet almost immediately upon being lifted by tail
abnormal sixth pharyngeal arch artery morphology any structural anomaly of the vessels formed within the sixth pair of branchial arches in embryogenesis
cranioschisis incomplete closure of the skull, usually congenital
abnormal fibula morphology any structural anomaly of the lateral and smaller bone of the lower limb
prolonged pq interval increase in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave
decreased nk cell number reduction in the number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells
abnormal type iii spiral ligament fibrocytes any structural anomaly of type III spiral ligament fibrocytes which form a cell layer attached to the otic capsule
abnormal sweat gland secretion altered ability of the coiled tubular glands of the skin to produce or secrete sweat in response to appropriate stimuli
absent trochlear nerve absence of the fourth cranial nerve, which normally carries the motor innervation of the superior oblique muscles of the eye
abnormal synaptic plasticity anomaly in the ability of a synapse to change its strength as a result of successive activations
abnormal utricular macula morphology any structural anomaly of the neuroepithelial sensory receptor in the inferolateral wall of the utricle; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies; normally sensitive to linear acceleration in the longitudinal axis of the body and to gravitational influences
abnormal olfactory lobe morphology
osteomalacia A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone.
increased circulating insulin level
decreased dn4 thymocyte number reduced number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive.
eye inflammation an inflammation in the eye(s)
short neck Diminished length of the neck.
absent proximal convoluted tubule brush border failure to form a brush border of densely packed microvilli on the luminal surface of epithelial cells of the proximal convoluted tubule
abnormal protein level anomaly in the amount of any of the macromolecules consisting of long chains of amino acids in peptide linkage
increased triglyceride lipase activity greater ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion
increased igg2c level greater than normal immunoglobulin class G2c level
increased erythrocyte cell number greater number of the cells that transport oxygen, red blood cells, per unit
abnormal circulating interleukin-5 level anomaly in the amount in the blood of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells
incomplete rostral neuropore closure arrest of the fusion of the cephalic neural folds
abnormal hindbrain size deviation from the average range of hindbrain size compared to normal
absent mesenteric lymph nodes absence of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group
convulsive seizures seizures characterized by uncontrolled motor activity
lymph node medullary cord hyperplasia increase in the number of normal cells in normal arrangement in the lymph node medullary cords, resulting in a thickening or enlargement of the structure, caused by stimuli including increased physiological demand, inflammatory response, hormonal changes or hormonal dysfunctions, and/or compensation due to a pathological cause elsewhere
alcohol aversion purposeful avoidance of alcohol due to dislike
increased basal cell carcinoma incidence greater than the expected number of a slow-growing, invasive, but usually non-metastasizing neoplasm that originates from basal keratinocytes in the epidermis, occurring in a specific population in a given time period
oviduct atrophy acquired diminution of the size of the oviduct associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
persistent ductus caroticus uni- or bilateral persistence of the segment of dorsal aorta located between the third (III) and fourth (IV) aortic arches, which normally regresses early in development; persistence of ductus caroticus with regression of third arch or fourth arch causes the internal and external carotid arteries to arise from the aortic arch on the left side
thin retinal outer plexiform layer reduced thickness of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)
abnormal cerebellum lobule morphology any structural anomaly of the ten gyri of the cerebellar cortex
prenatal lethality death anytime between fertilization and birth (Mus: approximately E18.5)
absent follicular dendritic cells absence of cells with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response
hypopigmentation A reduction of skin color related to a decrease in melanin production and deposition.
abnormal midbrain-hindbrain boundary morphology any structural anomaly of the midbrain-hindbrain domain of the embryonic brain that is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; normally, an organizing center located at the boundary patterns the midbrain and hindbrain primordia of the neural plate
abnormal mean corpuscular volume deviation from normal for the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices
skin hyperplasia overdevelopment or increased size, usually due an increased number of cells in the skin; usually results in thick skin
absent erythrocytes lack of mature red blood cells
abnormal lacrimal gland morphology any structural anomaly of the glands that secrete tears
abnormal response to infection any anomaly in the body's reaction to invasion and multiplication of microorganisms in its tissues, or the body's reaction to components of or toxins produced by pathogenic microorganisms
abnormal dendritic cell antigen presentation anomaly in the ability of dendritic cells to process and present antigen to T lymphocytes
muscle hypoplasia Underdevelopment of the musculature.
abnormal humerus morphology any structural anomaly of the bone of the forelimb that articulates with the scapula above and the radius and ulna below
increased classified tumor incidence greater than the expected number of tumors with a specific classification type in a given population in a given time period
abnormal descemet membrane any structural anomaly in the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea, considered to be a highly developed basement membrane
abnormal incus morphology any structural anomaly of the middle of the three auditory ossicles
increased curvature of awl hairs greater bending arch of the awl hairs
abnormal testis cord formation any structural anomaly in the formation of the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence; defective testis cord formation is most likely to reflect abnormal function of either Sertoli cells or peritubular myoid (PTM) cells which normally cooperate to deposit a layer of basal lamina that defines the edges of individual testis cords
esophagus stenosis
increased urine phosphate level
absent chorion absence of the outermost extraembryonic membrane
abnormal complement pathway impaired ability of the complement proteins to act sequentially to directly kill microbes, dispose of immune complexes, and regulate other immune processes
aphagia failure to eat
abnormal hymen development anomaly in the morphogenesis of the thin membrane which may partially occlude the opening of the vagina; often absent in normal females
increased aggression when compared to controls, subjects exhibit greater than the normal level of domineering, assault posture and/or hostile physical action
fused tarsal bones
descending aorta dilation widening or enlargment of the lumen of the descending aorta
increased total lung capacity greater volume of air contained in the lungs at the end of maximal inspiration
impaired somite development atypical process of somite formation with the result of fewer or none of these cell masses being formed
increased intestinal adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the small and/or large intestine, occurring in a specific population in a given time period
arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.
atrium hypoplasia underdevelopment or reduced size of one or both of the two upper chambers of the heart, usually due to reduced cell number
increased percent water in carcass more than the normal total amount of water retained in the body measured post mortem
decreased cd8-positive, alpha-beta memory t cell number decreased number of CD8-positive, alpha-beta T cells with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high
increased circulating adrenocorticotropin level elevated concentration in the blood of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex
increased ovarian carcinoma incidence
elongated vertebral column increased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord
bulbourethral gland hypoplasia underdevelopment or reduced size, usually due to a reduced cell number, of the bulbourethral gland
abnormal retinal inner plexiform layer morphology any structural anomaly of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites
abnormal urethra urothelium morphology any structural anomaly of the epithelial lining of the luminal space of the urethra
enhanced cochlear frequency tuning increase in the sharpness of frequency resolution of the cochlea
tracheoesophageal fistula An abnormal connection (fistula) between the esophagus and the trachea.
abnormal urine magnesium level any change in the amount of magnesium in the urine
increased dn3 thymocyte number increased number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain.
abnormal circadian regulation of systemic arterial blood pressure any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours
pneumothorax
absent hippocampal commissure absence of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side
decreased right ventricle systolic pressure decrease in the pressure in the right ventricle as the heart contracts and pumps blood into the arteries
increased tail bud apoptosis increased number of cells undergoing programmed cell death in the primordial region of the embryo that arises to form the tail of the adult
abnormal cauda epididymis morphology any structural anomaly of the tail of the epididymis
palatal shelves fail to meet at midline polarized growth towards the midline following palatal shelf elevation does not occur
abnormal mitral valve anulus morphology any structural anomaly of the fibrous ring of the mitral valve that attaches the cusps of mitral valve to the heart, and which consists of portions of the fibrous scallops of the anterior and posterior cusps
dystocia slow or difficult delivery of offspring and/or placenta
abnormal vascular resistance deviation from the normal force opposing the flow of blood through a vascular bed; it is equal to the difference in blood pressure across the vascular bed divided by the cardiac output
cochlear outer hair cell degeneration degeneration or loss of the columnar outer hair sensory cells of the organ of Corti
increased circulating thyroxine level greater than the normal blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism
decreased embryonic epiblast cell proliferation reduction in the expansion rate of the embryonic epiblast cells by cell division
catalepsy a condition characterized by inactivity, lack of response to stimuli, and a tendency to maintain an immobile posture; the limbs tend to remain in whatever position they are placed (waxy rigidity); occurs with some psychoses, nervous system drug toxicity, and other conditions
decreased skeletal muscle size less than average dimensions of one or more of the muscles of the skeleton
abnormal regulatory t cell number deviation from the average count of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity
abnormal tricuspid valve anulus morphology any structural anomaly of the fibrous ring of the tricuspid valve that attaches the cusps of tricuspid valve to the heart, and which consists of portions of the fibrous scallops of the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp)
abnormal dermis reticular layer collagen network an anomaly in the amount or arrangement of the criss-crossing collagen fibers that form a strong elastic network normally arranged in parallel to the surface of the skin
increased colon tumor incidence greater than the expected number of neoplasms in the colon, usually in the form of a distinct mass, in a specific population in a given time period
increased susceptibility to diet-induced obesity more likely to become excessively overweight or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat
abnormal craniofacial bone morphology any structural anomaly of the cranial or facial bones
abnormal ectoderm development any abnormality in the formation of the outer of the three primary germ layers of the embryo (the others being mesoderm and endoderm) that originates in the epiblast and is formed during gastrulation; ectoderm is in contact with the amnionic cavity and gives rise to two distinct lineages, i.e. the surface ectoderm and the neural ectoderm; it is the source of Rathke's pouch and forms the central and peripheral nervous systems, the sensory epithelia of the eye, ear, and nose, the epidermis and its appendages (nails and hair), the mammary, pituitary and subcutaneous glands, the tooth enamel, and the mucous membranes of the mouth and anus
increased pro-b cell number greater number of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs
abnormal gametes anomaly of any mature reproductive cell, ovum or spermatozoon, capable of fusing with a cell of similar origin, but opposite sex, to produce a zygote
abnormal branching involved in respiratory bronchiole morphogenesis anomaly in the process in which the branched structure of the respiratory bronchioles are generated
dilated uterine cervix stretched or widened aperture of the lower opening of the uterus to the vagina
impaired active avoidance behavior impaired ability to escape a hostile environment to actively avoid the unpleasant or punishing stimuli ( e.g. shock) previously encountered in this environment
ameloblast degeneration a retrogressive impairment of function or destruction of the epithelial cells of the inner later of the enamel organ of the developing tooth
abnormal heart atrium and ventricle connection any anomaly in the in the position or pattern of the connection site of the heart atrium to the ventricles, usually occurring through the atrioventricular valves
liver hemorrhage bleeding within the liver
abnormal thyroid follicular cell morphology any structural anomaly of the thyroxine-producing follicular cells derived from the thyroid diverticulum which evaginates from the endodermal epithelium of the embryonic pharyngeal floor
nephrocalcinosis
dilated kidney collecting duct stretched or widened aperture of the luminal space of the collecting ducts
phimosis
abnormal lung position or orientation the lung is displaced from the normal position and/or has an altered left/right orientation
reversion by viral sequence excision restoration of wild-type phenotype by removal of a viral sequence or a viral- related sequence that produced a mutant phenotype
abnormal metestrus any anomaly or aberrant timing of the phase of the estrous cycle which follows estrus when mature eggs move through the oviducts and into the uterus; the vulva is no longer bloated, and the vagina is now closed
abnormal granulocyte number an anomaly in the number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils
abnormal secondary sex determination gonadal development may or may not be normal, and the phenotype of the animal outside the gonad does not match chromosomal sex or is ambiguous
absent fourth ventricle absence of the irregularly shaped cavity in the rhombencephalon, normally located between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; the fourth ventricle is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space
abnormal circulating alanine transaminase level aberrant concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2-ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction
short femur An abnormal shortening of the femur.
abnormal effector memory cd8-positive, alpha-beta t cell number any structural anomaly of a CD8-positive, alpha beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative
abnormal podocyte adhesion any anomaly in the adhesive properties of glomerular podocytes, resulting in abnormal cell to cell and cell to extracellular matrix (ECM) interactions; podocytes adhere tightly to ECM components of the glomerular basement membrane via an integrin-laminin-actin axis to maintain a functional filtration barrier in the presence of mechanical stress
abnormal interferon-beta secretion anomaly in the production or release of one of the type I interferons produced by fibroblasts in response to stimulation by live or inactivated virus or by double-stranded RNA with antiviral, antiproliferative, and immunomodulating activity
abnormal embryonic tissue physiology any functional anomaly in any of the tissues of the embryo proper
polychromatophilia condition characterized by the presence of red blood cells that have an affinity for acid, basic, and neutral stains
abnormal retinal inner nuclear layer thickness anomaly in the thickness of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells
abnormal fluid regulation any anomaly in the control of intracellular and/or extracellular fluid
abnormal class switch recombination anomaly in the rearrangement of the heavy chain genes of differentiating B cells such that the initially encoded heavy chain IgM molecule is altered to one encoding IgG, IgA or IgE; normally, this allows the body to produce antibodies with different effector functions
abnormal t-helper 1 cell morphology any structural anomaly of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity
abnormal ovary physiology any functional anomaly of the ovarian follicle for the production of female germ cells or the endocrine cells for the production of estrogen and progesterone
decreased birth weight reduction in average weight at birth compared to controls
enhanced paired-pulse facilitation increase in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to greater increase of neurotransmitter release at the second stimulus
increased susceptibility to endotoxin shock more than the expected early reaction of the microcirculation to endotoxins such as LPS, characterized by movement of fluid and leukocytes from the blood into extravascular tissues and often resulting in death
philtrum hypoplasia
presphenoid bone hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult
abnormal esophageal epithelium morphology any structural anomaly of the epithelial layer that lines the luminal space of the esophagus
ectopic bergmann glia cells abnormal position of one or more astrocyte-type glia cells associated with Purkinje cells in the cerebellum
increased body length increased measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction
vagina atresia
abnormal baroreceptor physiology any functional anomaly of the sensory nerve endings found in the wall of the atria of the heart, vena cava, aortic arch and carotid sinus that are sensitive to changes in blood pressure
abnormal basal metabolism any anomaly in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
abnormal rib attachment any anomaly in the in the normal joining of the ribs to the vertebral column or to the sternum
increased t-helper 1 cell number greater number of the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity
abnormal blastocyst formation atypical formation of a blastocyst from a solid ball of cells known as a morula, including anomalies in the formation of a fluid-filled cavity (blastocoele) and/or initiation of inner cell mass and trophectoderm differentiation
abnormal motor neuron innervation pattern any changes in the placement, morphology or number of motor nerve fibers to an effector motor tissue, or failure of refinement of neuronal connections during development
abnormal food preference the desire to eat more or less food than average, or to eat unusual foods
abnormal internal anal sphincter morphology any structural anomaly of the smooth muscle ring, formed by an increase of the circular muscle fibers of the rectum, situated at the upper end of the anal canal, internal to the outer voluntary external anal sphincter
small otic vesicle reduced size of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear
decreased brown fat cell lipid droplet size reduction in the size of the multiple small droplets of triglycerides found in brown adipocytes
abnormal olfactory system morphology any structural anomaly of the organs involved in smell
descending aorta stenosis diffuse constriction or narrowing of the descending aorta
abnormal motor neuron morphology Any structural anomal that affects the motor neuron.
thin endometrium reduced thickness of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy
absent metanephros absence of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord
carpoptosis paralysis of the extensors of the wrist and fingers; most often caused by a lesion of the radial nerve
increased colon hamartoma incidence greater than the expected number of benign focal malformations in the colon in a specific population in a given time period; results from faulty colonic development, and is composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element normally present at that site
decreased langerhans cell number reduction in the number of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus
increased uterus weight increase in the weight of the female organ of gestation
decreased susceptibility to pharmacologically induced seizures ability to withstand doses of pharmacological drugs that induce seizure activity in normal animals; exhibit a higher threshold to induce seizure activity
atrioventricular valve regurgitation the backward reflux of blood through the atrioventricular valve, due to insufficiency caused by disease, aging or congenital malformation
delayed intestine development slowed progression to a structurally mature intestine
akinesia Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.
abnormal response to novelty alteration in amount of exploration/investigation of a novel object, situation or environment
abnormal adrenocorticotropin level anomaly in the level of the pituitary hormone that stimulates the secretion of adrenal cortical steroids and induces growth of the adrenal cortex
abnormal t cell receptor gamma chain v-j recombination any anomaly in the process by which V and J gene segments of the T cell receptor gamma chain are recombined
posterior microphthalmia reduced average size of the back of the eye
increased astrocyte number increase in the number of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord
abnormal bone marrow cell morphology/development any structural anomaly of the cells found in the bone marrow
short inner hair cell stereocilia reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner hair cells
abnormal involuntary movement anomaly in movements that occur independent of planning (e.g. reflexive behavior)
abnormal circulating enzyme level aberrant concentration in the blood of any of the proteins that act as catalysts for biological reactions
abnormal apoptosis excessive or absent cell death in a particular tissue or cell type
abnormal pulmonary alveolus morphology any structural anomaly of the small sac-like dilations of the distal airspace of the lung; they are present along the walls of the alveolar sacs, alveolar ducts and terminal bronchioles; gas exchange of oxygen and carbon dioxide between alveolar air and blood in the pulmonary capillaries takes place across the cell walls
head blaze the appearance of a stripe of white fur on the head
disorganized retinal inner nuclear layer derangement of the normal pattern of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells
altered susceptibility to kidney reperfusion injury a change in the likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia
abnormal venule morphology any structural anomaly of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins
abnormal hippocampus ca4 region morphology any structural anomaly of the region of the hippocampal formation that is comprised of mossy cells that primarily receive inputs from granule cells in the dentate gyrus in the form of mossy fibers and from pyramidal cells in CA3, and send outputs into the dentate gyrus
external male genitalia atrophy acquired diminution of the size of the external masculine genital organs, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
dilated hair follicle infundibulum the luminal space of the hair follicle infundibulum is increased in volume or area, sometimes with an increase of contained fluid or sebum
increased circulating interleukin-2 level increase in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes
incomplete embryo turning arrest of the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage
abnormal mechanoreceptor morphology anomaly in the receptors of the body, usually nerve termini, that respond to mechanical pressure or distortion
absent coronary vessels absence of the arteries and veins that supply blood to the heart or return blood from the heart muscles to the circulation
abnormal vibrissa follicle morphology any structural anomaly of one of the tubular invaginations of the epidermis enclosing the hair roots and from which grow the vibrissae located on the muzzle and face of many species
abnormal hepatobiliary system morphology any structural anomaly of any of the tissues of the liver or biliary system
decreased mammary gland tumor incidence less than the expected number of neoplasms in the mammary gland, usually in the form of a distinct mass, in a specific population in a given time period
abnormal mandibular coronoid process morphology any structural anomaly of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion); includes the attachment site to the temporal muscle
abnormal clavicle morphology any structural anomaly of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula
brachydactyly A bone development disease characterized by short fingers and toes.
decreased tail pigmentation visually detectable dilution of pigment present on the tail surface
airway basal cell hyperplasia increased number of the long-lived multipotent stem cells of the pseudostratified airway epithelium
abnormal phrenic nerve innervation pattern to diaphragm any changes in the placement, morphology or number of the portion of phrenic nerve fibers providing motor supply to the diaphragm
decreased myeloid dendritic cell number reduction in the number of phagocytic cells of the myeloid lineage that capture antigens in the periphery and then migrate to the lymphoid organs and secrete cytokines to initiate immune responses
increased esophageal papilloma incidence higher than normal incidence of a benign epithelial tumor consisting of villous or arborescent outgrowths of fibrovascular stroma of the esophagus
increased vibrissae length longer average length of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors
abnormal external female genitalia morphology
abnormal trigeminal v mesencephalic nucleus morphology any structural anomaly of the group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve
decreased somatotroph cell size reduced growth or small size of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin
abnormal bile canaliculus morphology any structural anomaly of the intercellular channels that take up bile from hepatocytes and transport it to the bile ducts
abnormal thoracic duct morphology any structural anomaly in the largest collecting lymph vessel in the body, beginning at the cisterna chyli at about the level of the second lumbar vertebra, and drains into the systemic (blood) circulation at the left brachiocephalic vein between the left subclavian and left internal jugular veins
pregnancy-related premature death death occurring before the normal life span of an organism, occurring during pregnancy, parturition or lactation
increased trophoblast giant cell number greater than normal number of cells of the extraembryonic cell layer that contributes to the placenta
disorganized long bone epiphyseal plate a lack of the regular arrangement of the cells or zones of the epiphyseal plate
absent lower incisors missing the lower pair of long teeth that are the most anterior and prominent in the jaw
abnormal left renal vein morphology any structural anomaly of the longer of the two renal veins that receives blood from the left kidney; the left renal vein usually receives the left inferior phrenic vein, the left suprarenal vein, the left gonadal vein (left testicular vein in males, left ovarian vein in females) and the left second lumbar vein whereas these veins on the right side drain directly into the inferior vena cava
abnormal pharyngeal muscle morphology any structural anomaly of any of the muscles of the pharynx, the inferior, middle and superior constrictors, salpingopharyngeus, and stylopharyngeus
decreased vestibular hair cell number decreased number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear which are normally in synaptic contact with the vestibular nerve
abnormal ureter physiology any functional anomaly of the tube that conducts the urine from the renal pelvis to the bladder
abnormal muscle weight any anomaly in the average muscle weight
arteriosclerosis An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
brain ventricle stenosis abnormal narrowing or constriction of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord
abnormal esophagus development aberrant formation of the part of the digestive canal through which food passes from the pharynx to the stomach
absent cornea absence of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure
abnormal spleen size deviation from the normal spleen size
absent germinal center b cells absence of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen
ascending aorta dilation the luminal space of the ascending aorta is increased in volume or area, usually with an increase of contained fluid
increased mast cell number greater than expected number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation
abnormal hair follicle inner root sheath morphology any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer and the inner root sheath cuticle
extramedullary hematopoiesis The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.
abnormal neuroendocrine gland morphology any structural anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli
abnormal amino acid level any anomaly in the amount of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group
short sperm flagellum decreased length of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility
increased gastrointestinal stromal tumor incidence higher than normal incidence of non-epithelial, mesenchymal tumors of the gastrointestinal tract, thought to originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract; approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum; GISTs are tumors of connective tissue, i.e. sarcomas, account for 1-3% of all gastrointestinal malignancies in human, and are typically more cellular than other gastrointestinal sarcomas
short limbs reduced average length of the extremities
abnormal head movements
increased susceptibility to infection
abnormal hyoid bone morphology any structural anomaly of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles
increased blood uric acid level
increased circulating copper level greater than normal concentration of copper in the blood
increased circulating gonadotropin level greater than the normal blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis
decreased hyoid bone size reduced size of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles
abnormal activation-induced cell death of t cells any anomaly in the process of the type of T cell apoptosis that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen and is triggered by T cell receptor stimulation and signals transmitted via various surface-expressed members of the TNF receptor family such as Fas ligand, Fas, and TNF and the p55 and p75 TNF receptors
abnormal sublingual gland morphology any structural anomaly of the small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland
abnormal memory b cell physiology abnormal function of a distinctly differentiated long-lived B cell that is readily activated upon reencounter of its antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin
absent proamniotic cavity absence of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds
absent sperm flagellum absence of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility
increased alpha-beta t cell number greater number of T cells that expresses an alpha-beta T cell receptor complex
increased circulating growth hormone level greater than the expected blood concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization
decreased fasted circulating glucose level reduction in the amount of glucose in the blood at some defined time point after eating compared to controls
absent adrenergic chromaffin cells absence of the cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine secretion
skeletal muscle hypoplasia underdevelopment or decreased size of the skeletal muscle, usually due an decreased number of cells
absent mouth absence of the oral cavity
diffuse z lines widely spread cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere
abnormal basisphenoid bone morphology any structural anomaly of part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone
abnormal retinal layer morphology any structural anomaly of any of the layers that make up the retina
abnormal stylohyoid ligament morphology any structural anomaly of the fibrous cord that connects the tip of the styloid process of the temporal bone to the lesser horn of the hyoid bone
decreased susceptibility to endotoxin shock less than the expected early reaction of the microcirculation to endotoxins such as LPS, characterized by movement of fluid and leukocytes from the blood into extravascular tissues and often resulting in death
ectopic mammary gland one or more of the expected number of mammary glands that differentiate during early embryogenesis is/ are not located according to the normal arrangement
absent phrenic nerve absence of the motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues
abnormal skeletal muscle size anomaly in the size of the striated muscle fibers connected at either or both extremities with the bony framework of the body
absent kidney
increased gamma-delta t cell number greater number of immature or mature T cells expressing an gamma-delta T cell receptor complex
abnormal acid-activated cation-mediated receptor currents change in the measured amplitude, current density or duration of response to stimulation of acid-activated cation-mediated receptors
abnormal paranode morphology any structural anomaly of the axon region immediately adjacent to nodes of Ranvier, where a series of cytoplasmic loops from the overlying glial cell form septate-like junctions with the axon; the axoglial junctions act as a diffusion barrier between the node and internode
abnormal vomeronasal sensory neuron morphology any structural anomaly of chemosensitive cells that innervate the vomernasal organ epithelium and are responsible for receiving and transmitting pheromone signals
abnormal anterior cardinal vein morphology any structural anomaly of the two paired veins draining the cephalic part of the body
abnormal dorsal telencephalic commissure morphology any structural anomaly of the fiber tracts that connect the dorsal region of the two cerebral hemispheres and span the longitudinal fissure, including the corpus callosum and hippocampal commissure
abnormal muscle regeneration anomaly in the ability to repair muscle after injury or disease
abnormal skin appearance anomaly in the visual aspect of the skin
anhidrosis OMIM mapping confirmed by DO. [SN].
abnormal renal reabsorbtion any anomaly in the two-step process beginning with the active or passive extraction of substances (such as water, glucose, oligopeptides, amino acids, sodium (Na+) and other ions) from the renal tubule fluid into the renal interstitium, and the subsequent transport of these substances out of the renal interstitium back into the bloodstream; reabsorbtion begins in the proximal convoluted tubules and continues in the loop of Henle, distal convoluted tubules, and collecting tubules
abnormal female preputial gland morphology any structural anomaly of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attractivity; unlike other sebaceous glands, they undergo progressive atrophy of the glandular portion with marked ductal ectasia as rodents age; there is no true anatomical equivalent in humans
paresis partial loss of power of voluntary movement in a muscle through injury or disease of it or its nerve supply
renal interstitial fibrosis Fibrosis that involves the tubules and interstitial tissue of the kidney.
abnormal whisker trimming behavior anomaly in the behavior of plucking or biting off of the whiskers/vibrissae from other individuals of a cohort
abnormal sebaceous gland number any anomaly in the number of the holocrine glands that secrete sebum into the hair follicles, or in hairless areas into ducts
abnormal excitatory postsynaptic currents defect in the size or duration of currents detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization
abnormal bergmann glial cell morphology any structural anomaly of one or more astrocyte-type glia cells associated with Purkinje cells in the cerebellum
abnormal iris stroma morphology any structural anomaly of the lamellated vascular connective tissue of the iris
decreased circulating factor viii level reduced levels of the antihemophilic factor that is part of the factor VIII/von Willebrand factor complex; it is produced in the liver and acts in the intrinsic pathway of blood coagulation; it serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin
decreased keratinocyte apoptosis reduction in the number of keratinocytes undergoing programmed cell death
partial lethality throughout fetal growth and development the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)
abnormal circulating interleukin-12b level anomaly in the amount in the blood of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23
small intestinal inflammation local accumulation of fluid, plasma proteins, and leukocytes in the small intestine
abnormal circulating interleukin-9 level anomaly in the amount in the blood of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells
photosensitivity An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
brachypodia abnormally short feet
abnormal enterocyte differentiation abnormal formation of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen
decreased bronchoconstrictive response reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography
abnormal pancreatic alpha cell physiology anomaly in the function of the glucagon-producing cells of the islets of Langerhans in the pancreas
absent mature ovarian follicles absence of ovarian follicles that are ready for ovulation and present a blanched spot (the follicular stigma) where the graafian follicle is about to rupture on the surface of the ovary; a first maturation (meiotic) division of the primary oocyte usually occurs just prior to rupture of the follicle
increased incidence of tumors by uv-induction higher than normal frequency of tumor incidence induced by exposure to ultraviolet light
increased compact bone mass greater than normal total amount of compact bone tissue contained in the skeleton
abnormal spleen marginal sinus morphology any structural anomaly of the border region surrounding the spleen B cell follicles and the periarteriolar lymphoid sheath (PALS) that separates it from the marginal zone that mediates lymphocyte entry into the white pulp from the blood
increased eating frequency increase in the number of discrete instances of initiation of eating over time, regardless of amount eaten
abnormal vascular smooth muscle physiology any functional anomaly of the nonstriated, involuntary muscle tissue of the blood vessels
arrest of spermatogenesis block of the process by which spermatogonial stem cells divide and differentiate into spermatozoa
blind uterus presence of a female muscular organ of gestation that ends in a blind segment or sac and does not communicate with the cervix or vagina
increased spinal cord apoptosis increase in the number of cells of the neural tube undergoing programmed cell death
abnormal lung endothelial cell proliferation altered ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division
abnormal surfactant physiology anomaly in the production, composition or function of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli
abnormal type i vestibular cell any structural anomaly in the flask-shaped sensory cells of the maculae and cristae of the vestibular labyrinth of the inner ear, which are normally enclosed in calyx endings of afferent neurons; afferent and efferent nerve fibers of the vestibular nerve synapse with them; from the apical end of each cell a bundle of stereocilia and a kinocilium extend into the otolithic membrane of the maculae or the cupula of the cristae
impaired ability to fire action potentials anomaly resulting in reduced changes in membrane potentials occurring in nerve or other excitable tissue when excitation occurs
increased circulating atrial natriuretic factor greater than the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator
abnormal purkinje fiber morphology any structural anomaly in the cardiac muscle fibers composing the terminal portion of the heart conduction system located in the ventricle
long limbs increased average length of the extremities
abnormal interleukin-1 secretion anomaly in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens
decreased sensitivity to xenobiotic induced morbidity/mortality increase in the amount of a foreign compound required to cause death or diseased state
apnea Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
abnormal kidney iron level anomaly in the amount of iron present in the kidney tissue
accelerated tooth eruption
increased number of heinz bodies presence of intracellular inclusions usually attached to the red blood cell membrane, resulting from oxidative injury to and precipitation of hemoglobin in red blood cells
abnormal primary somatosensory cortex morphology any structural anomaly of the area of the postcentral gyrus and central sulcus that is involved in somatic sensation
abnormal fasted circulating glucose level any anomaly in the amount of glucose in the blood at some defined time point after eating compared to controls
absent hindgut absence of the caudal portion of the primitive digestive tube of the embryo
absent auditory tube absence of the tube connecting the tympanic cavity and the nasopharynx
superior cervical ganglion degeneration retrogressive pathological change or loss of the largest group of paravertebral ganglia of the sympathetic trunk which normally lies at the base of the skull and innervates the head and neck
abnormal proprioceptive neuron morphology any structural anomaly of the sensory neurons of the dorsal root ganglia that sense body position and send information about how much the muscle is stretched to the spinal cord
increased follicular b cell number greater number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes
dilated nephron stretched or widened aperture of the luminal space of the filtering unit of the kidney
abnormal hematopoietic cell number any anomaly in the expected number of cells of the hematopoietic lineage
delayed cellular replicative senescence slower progression of the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division
absent corpus callosum Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.
abnormal total fat pad weight anomaly in average total weight of the fat pad compared to controls
absent b-1a cells absence of the B-1 B cell subset bearing the CD5 surface marker
absent tongue squamous epithelium missing the scaly epithelial layer of the tongue
abnormal nk cell differentiation atypical production of or inability to produce mature lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells
persistent hyperplastic primary vitreous NT MGI.
abnormal placenta junctional zone morphology any structural anomaly of the fetally derived placental region that separates the maternal uterine tissue from the placenta labyrinth
hematopoietic system phenotype
abnormal long term depression change from the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of neurons
abnormal epaxial muscle morphology any structural anomaly of the muscles derived from the medial myotome; includes the intrinsic back muscles
absent lung buds absence of the blunt end of the respiratory diverticulum which normally grows ventrally out of the proximal end of the foregut, then extends caudally and divides into two, forming the origins of the bronchial tree
increased keratinocyte proliferation increase in the expansion rate of keratinocytes by cell division
absent pituitary gland lack of the gland that is normally suspended from the base of the hypothalamus and which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin
absent sex gland missing any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction
abnormal kidney papilla morphology any structural anomaly of the apex of the renal pyramid that projects into a calyx
abnormal atrioventricular septum morphology any structural anomaly of the wall of the heart that separates the right atrium and left ventricle; and is located just above the septal cusp of the tricuspid valve
abnormal central medial nucleus morphology any structural anomaly of a small cell group in the interthalamic adhesion of the thalamus that occupy the midline region of the internal medullary lamina, between the left and right paracentral nuclei
absent heart absence of the hollow, muscular organ that maintains the circulation of the blood
kidney thrombosis formation or presence of a thrombus within the blood vessel network of the organ of secretion
increased enterocyte cell number greater than expected number of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen
abnormal skeletal muscle fiber size anomaly in the size of the large multinucleated cells that make up the skeletal muscles
increased fasted circulating glucose level increase in the amount of glucose in the blood at some defined time point after eating compared to controls
abnormal cochlear ganglion morphology any structural anomaly of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)
small axillary lymph nodes reduced size of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region
abnormal endochondral bone ossification anomaly in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone
jumpy marked by fitful, jerky movements
absent maxilla missing the upper bony framework of the mouth where the superior teeth are held
abnormal midbrain development anomaly in the formation of or the patterning of the part of the brainstem developing from the middle of the three primary cerebral vesicles of the embryo
abnormal ureteric bud tip morphology any structural anomaly of the terminal ends of the ureteric tree; the ureteric tip cells are proliferating immature cells located at the branching points that induce the adjacent cap mesenchyme to undergo nephrogenesis
decreased osteoid volume reduction in the amount of space occupied by newly formed organic bone matrix secreted by osteoblasts
leukostasis
abnormal nk t cell physiology any functional anomaly of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments
abnormal plasmacytoid dendritic cell physiology any functional anomaly of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli; plasmacytoid dendritic cells are found in the thymic medulla and lymph node T cell areas and are responsible for immune tolerance
cup-shaped ears Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
abnormal acrosome morphology any structural anomaly of the cap-like structure at the anterior end of the sperm head that produces enzymes needed for egg penetration
increased cd4-positive, cd25-positive, alpha-beta regulatory t cell number a greater number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release
small hindlimb buds reduced size of the limb bud that normally develops into a hindlimb (usually the leg or back limb in mammalian species)
absent skin pigmentation Lack of skin pigmentation (coloring).
heart right ventricle hypoplasia underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells
abnormal pericyte morphology any structural anomaly of the connective tissue cells that occurs around capillaries or other small blood vessels
abnormal total retina thickness increased or decreased width of the retina through the center plane
small brachial lymph nodes reduced size of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes
urinary bladder inflammation Inflammation of the urinary bladder.
decreased neural crest cell number reduction in the number of ransient and migratory group of cells that emerge from the dorsal region of the neural tube and disperse to many peripheral locations to form various tissues of the adult
decreased solitary pulmonary neuroendocrine cell number decreased number of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis
abnormal podocyte slit junction morphology any structural anomaly of the gaps between the interdigitated foot processes of the podocyte
decreased anti-double stranded dna antibody level reduced level of antibodies to double stranded DNA present in the sera
abnormal right bundle morphology any structural anomaly of the right branch of the atrioventricular bundle that separates just below the bundle of His, descends the septal wall of the right ventricle and connects to the terminal Purkinje fibers
absent urinary bladder urothelium missing the transitional epithelial layer of the urinary bladder
abnormal thyroid parafollicular c-cell morphology any structural anomaly of the neuroepithelial secretory cells that occur singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid; these cells secrete calcitonin, 5-hydroxytryptamine and dopamine
increased uterus carcinoma incidence greater than the expected number of malignant neoplasms derived from uterine epithelial cells, occurring in a specific population in a given time period
abnormal interstitial cell of cajal morphology any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which gastrointestinal stromal tumours (GISTs) arise; abnormalities in the ICC network can cause chronic intestinal pseudo-obstruction
abnormal spinal cord morphology any structural anomaly of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris
abnormal spinal cord motile cilium morphology any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid
increased glomerular capsule space increased volume of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries
retinal neovascularization formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina
abnormal lipid homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of lipids in the fluids and tissues
decreased vestibular hair cell stereocilia number decreased number of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on vestibular hair cells in a staircase-like pattern
abnormal lymph node germinal center morphology any structural anomaly of the area of the lymph node secondary follicle where antigen-activated B-cell blasts are stimulated by antigens and proliferate, with the immunoglobulin genes undergoing somatic hypermutation, before the cells migrate away as plasma cells or memory cells
abnormal mitochondrial matrix morphology any structural anomaly of the gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion, and contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation
abnormal pancreatic islet size anomaly in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas
decreased susceptibility to type i hypersensitivity reaction less likelihood or resistance to developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks
ventricular aneurysm A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.
decreased circulating phosphate level
increased oral papilloma incidence greater than the expected number of benign tumors consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic epithelial cells in the oral cavity
absent cerebellar granule layer absence of the innermost cortical layer of the cerebellum; contains densely packed small neurons, mostly granule cells with some Golgi cells are found at the outer border
dilated pulmonary artery the luminal space of the pulmonary artery is increased in volume or area, usually with an increase of contained fluid
abnormal synaptic vesicle clustering any functional anomaly in the process of accumulation of synaptic vesicles at the active zone of presynaptic membranes
abnormal renal glomerulus morphology any structural anomaly of the tuft formed of capillary loops and mesangium at the beginning of each nephretic tubule in the kidney that normally function as a filtration unit
deiters cell degeneration degeneration or loss of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities
increased circulating creatinine level greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction
abnormal intrahepatic bile duct morphology any structural anomaly of the passages within the liver for the conveyance of bile
increased t cell proliferation increase in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli
distorted hair follicle pattern twisted or contorted configuration of the arrangement of hair follicles in the skin
abnormal metallophilic macrophage morphology any structural anomaly of the macrophage cells that surround the white pulp of the spleen, adjacent to the marginal sinus
abnormal philtrum morphology any structural anomaly of the vertical groove found on the median line of the upper lip
increased interleukin-1 beta secretion increase in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane
decreased kidney weight reduced weight of the organs responsible for urine secretion
coronary artery stenosis
increased tumor necrosis factor secretion increase in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium
increased myeloid sarcoma incidence
increased diameter of tibia increased width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge
enlarged popliteal lymph nodes increased size of the lymph nodes which drain the legs
absent cochlear nerve compound action potential absence of the combined potentials resulting from activation of the auditory division of the eighth cranial nerve
kidney medulla atrophy acquired diminution of the size of the inner portion of the kidney consisting of the renal pyramids, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
decreased post-tetanic potentiation reduction in the size or duration of potentials that persist after tetanic stimulation of central synapses
mydriasis Abnormal dilatation of the iris.
head shaking repetitive movement of the head in the horizontal plane
abnormal mammary gland epithelium morphology any structural anomaly of the mammary gland epithelium which is normally enveloped by a basement membrane, embedded into fatty connective tissue stroma, and organized as a bilayer, with an inner luminal layer of secretory epithelial cells, and an outer basal layer; each cell layer expresses specific molecular markers; luminal epithelial cells are characterized by the expression of the receptors for systemic hormones, i.e. estrogens, progesterone and prolactin, whereas basal cells (aka myoepithelial cells) express smooth muscle contractile proteins; in functionally differentiated mammary gland, during lactation, luminal cells produce milk, whereas myoepithelial cells are contractile and serve for milk expulsion
atrial fibrillation A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
abnormal vertebral body development anomalous formation of the main portion of the vertebra anterior to the vertebral canal, and distinct from the vertebral arch
decreased pulmonary ventilation reduction in the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment
delayed estrous cycle onset of the estrous cycle of females occurring at a later than expected day/age
short metacarpal bones reduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges
decreased trophectoderm cell proliferation
aneuploidy chromosome count is not an exact multiple of the haploid number
abnormal truncus arteriosus septation anomaly in the process of dividing the common arterial trunk arising out of both heart ventricles to divide into the aorta and pulmonary artery during development
abnormal ureter urothelium morphology any structural anomaly of the epithelial lining of the luminal space of the ureter
respiratory system inflammation local accumulation of fluid, plasma proteins, and leukocytes in the respiratory system
increased rhombomere 1 size increased size of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus
large orbits increased size of the orbits
increased circulating cholesterol level
abnormal oviduct physiology any functional anomaly of the tube through which the ova pass from the ovary to the uterus
abnormal vascular endothelial cell migration anomaly in the movement of endothelial cell or their precursors to the appropriate location in the body
syringomyelia
delayed cns synapse formation increase in time required to complete the process of generating connections between an axon and effector tissue or neuron
amyloidosis An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues.
absent metacarpal bones missing all of the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges
absent organ of corti supporting cells absence of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti
abnormal endocochlear potential any alterations in the electrical potential difference (+80 - 100 mV) between the endolymphatic and perilymphatic compartments of the cochlea; this potential is generated by the stria vascularis
amyloid beta deposits formation of self-assembled aggregates of the cleaved App Abeta protein fragment; often seen in neurodegenerative disorders such as Alzheimer's disease
thick interventricular septum increased thickness of the wall between the two lower chambers of the heart
increased cell migration increased or faster movement of cells from one site to another, often occurring during developmental or chemotactic processes
abnormal neurohypophysis morphology any structural anomaly of the posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormone
abnormal circulating tumor necrosis factor level anomaly in the amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium
abnormal renal tubule epithelium morphology any structural anomaly of the cellular avascular layer of the renal tubule luminar surfaces
endometrium hyperplasia overdevelopment or increased size, usually due an increased number of cells, of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy
cns ischemia inadequate blood flow to a region of the brain that may lead to cerebral infarction
abnormal cellular hemoglobin content anomaly in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume
abnormal tidal volume anomaly in the volume of air inspired or expired during each normal respiratory cycle
abnormal circulating noradrenaline level aberrant blood amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine
accelerated hair follicle regression earlier onset of catagen phase during the cyclic transformation of the hair follicle
decreased growth hormone level less than the expected concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization
abnormal juxtaglomerular cell morphology any structural anomaly of the specialized smooth muscle cells that synthesize, store, and secrete renin and are found in the wall of each afferent arteriole of a kidney glomerulus near its point of entry adjacent to a macula densa; J-G cells are distinguished by their granulated cytoplasm and play a critical role in the renin-angiotensin system and thus in renal autoregulation
abnormal cranial nerve morphology any structural anomaly of any of the twelve nerves that emerge from the cranium as opposed to the spinal nerves
abnormal epidermis suprabasal layer morphology any structural anomaly of the suprabasal layer of the epidermis
urinary bladder hypoplasia underdevelopment or reduced size of the urinary bladder, usually due to a reduced number of cells
absent common myeloid progenitor cells lack of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages
absent late pro-b cells absence of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain
abnormal intestinal goblet cell morphology any structural anomaly of a goblet cell that is part of the epithelium of intestinal villus
abnormal large intestine crypts of lieberkuhn morphology any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine
absent trigeminal ganglion absence of the group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve)
decreased fertilization frequency the number of secondary oocytes each penetrated by a spermatozoon followed by fusion of the male and female pronuclei are fewer than expected
abnormal cricoid cartilage morphology any structural anomaly of the most inferior of the laryngeal cartilages
alveolitis An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.
altered tumor morphology any structural anomaly of a given tumor type compared to controls
salivary gland inflammation
abnormal pancreatic epsilon cell morphology any structural anomaly of the endocrine cells found in the Islets of Langerhans that produce the hormone ghrelin
abnormal gallbladder physiology A functional anomaly of the gallbladder.
abnormal urine homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of the various chemical or protein components of the urine
absent sclerotome absence of the group of mesenchymal cells that emerge from the ventromedial part of a somite and migrate toward the notochord to give rise to the ribs and vertebrae
abnormal sinoatrial node morphology any structural anomaly of the small mass of modified cardiac muscle fibers located at the junction of the superior vena cava and the right atrium that is the source of contraction impulses for the heart
hypersecretion of corticosterone increased release of this adrenocortical steroid that induces glycogen deposition and regulates sodium conservation and potassium secretion
increased testis weight greater average weight of the male reproductive glands
lymphedema
retina hyperplasia overdevelopment or increased size, usually due an increased number of cells in the thin layer of neural tissue lining the back of the eyeball which contains visual receptors
abnormal intraocular pressure An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.
abnormal neuron proliferation any anomaly in the ability of a neuron to undergo rapid expansion by cell division
decreased bone trabecula number decreased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force
induced hyperactivity increased physical activity following stimulation such as handling, touching or noise
long incisors increased length of the set of long teeth that are the most anterior and prominent in the jaw
increased dopamine level greater than the normal amount of this catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary
delayed intramembranous bone ossification late onset of bone formation in bones that form without a cartilaginous intermediate including the cranium and clavicle
anisocoria Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.
increased myocardial fiber number increased number of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart
increased grip strength greater ability to grasp and hold objects, often measured as time spent hanging from an object or wire
increased osteoma incidence greater than the expected number of benign neoplasms derived from lamellar bone, in a specific population in a given time period
right atrial isomerism Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.
increased mouth tumor incidence greater than the expected number of neoplasms in the mouth tissues, usually in the form of a distinct mass, in a specific population in a given time period
abnormal cerebellum vermis lobule v morphology The culmen lobule (lobules IV/V) is a single structure in humans, but it is divided by the intraculminate fissure in many rodents. In some mouse strains such as SLJ/J, the intraculminate fissure is absent, in some strains such as DBA/2J it is present, and other strains (C57BL/10J and BALB/cJ) exhibit considerable variablility (PMID: 1953602).
slow wallerian degeneration an increase in the length of time for the process of progressive degeneration of axons distal to an injury to occur
short incisors reduced length of the set of long teeth that are the most anterior and prominent in the jaw
abnormal ige level deviation from the normal levels of immunoglobulin class E level
small embryonic epiblast reduced size of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion
nervous increased, skittish, behavior induced by stimulation such as handling, touching or noise
trabecula carnea hypoplasia underdevelopment or reduced size of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart, usually due to a reduced number of cells
transmission ratio distortion the frequency that an allele or haplotype in the offspring of an organism deviates from expected Mendelian ratios
abnormal fetal cardiomyocyte physiology any functional anomaly of fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes
decreased sertoli cell phagocytosis decreased phagocytic activity of testicular Sertoli cells
abnormal erg latency anomaly in the time from onset of stimulus to beginning of a waveform feature
organ of corti degeneration a retrogressive impairment of function or destruction of all or part the highly specialized epithelium in the floor of the ductus cochlearis
abnormal eyelid morphology any structural anomaly of the skin folds covering the front of the eyeball
decreased anti-insulin autoantibody level reduced level of antibodies to insulin present in the sera
abnormal barbering behavior anomaly in the behavior of plucking of fur/hair or whiskers/vibrissae from other individuals of a cohort (hetero-barbering) or oneself (self-barbering); it is recognized as patches of unevenly chopped hair and the underlying skin is seldom inflamed
chromosomal instability abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity
left atrial isomerism In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest.
abnormal defecation amount anomaly in the amount of discharge of feces from the body compared to the control
increased forebrain apoptosis increase in the number of cells of the forebrain undergoing programmed cell death
abnormal erythrocyte cell number altered number of the cells that transport oxygen, red blood cells, per unit
abnormal red nucleus morphology any anomaly of the pale pink structure located in the tegmentum of the midbrain next to the substantia nigra and involved in motor coordination
increased spleen weight greater than average weight of the organ that functions to filter blood and to store red corpuscles and platelets
increased total body fat amount greater than the normal total amount of connective tissue composed of fat cells within the entire body
submucous cleft palate
impaired stratum corneum desquamation dysregulated shedding of the outermost layer of corneocytes, affecting the integrity and thickness of the stratum corneum; may result in xerotic and ichthyotic conditions
cataracts
pancreas lipomatosis an accumulation of abnormally localized or tumor-like fat in the pancreas
abnormal kidney medullary ray morphology any structural anomaly in the center of a renal, cortical lobule, consisting of the ascending or descending limbs of the loop of Henle or of the collecting tubules; medullary rays are regions where parallel arrays of straight tubules travel perpendicular to the capsule and extend from the cortex to the medulla
psoriasis A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis.
abnormal pituitary gland morphology any structural anomaly of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin from the anterior lobe; melanocyte stimulating hormone from the intermediate lobe and hormones involved in blood pressure regulation from the posterior lobe
abnormal male germ cell morphology A structural anomaly of a male reproductive cell.
decreased fear-related response reduced emotional response related to anticipation of specific pain or danger
decreased white fat cell lipid droplet size reduction in the size of the single large lipid droplet or vacuole of white fat cells
decreased b-2 b cell number reduced number of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells
abnormal urine enzyme level any change in the level of enzymes in the urine
abnormal follicular dendritic cell morphology any structural anomaly of a cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue; follicular dendritic cells have Fc receptors and C3b receptors, and hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response
decreased splenocyte apoptosis reduction in the number of spleen cells undergoing programmed cell death
absent tail completely lacking the appendage at the caudal end of the vertebral column
decreased mitochondrial proliferation reduction in the expansion rate of the cellular organelles responsible for energy production by division
neurogenic bladder
bronchial epithelial hyperplasia increased numbers of cells lining the inner surfaces of the bronchi
increased compact bone thickness thicker than normal superficial layer of compact bone
absence of all nails absence of all of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits
globozoospermia Any structural anomaly of the acrosome resulting in a round sperm head.
abnormal septum transversum morphology any structural anomaly of the thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions; the cranial part of the septum transversum gives rise to the central tendon of the diaphragm and is the origin of the myoblasts that invade the pleuroperitoneal folds resulting in the formation of the muscular diaphragm, and the caudal part of the septum transversum is invaded by the hepatic diverticulum which divides within it to form the liver and thus gives rise to the ventral mesentery of the foregut
abnormal lung tissue damping anomaly in the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues
hypoactivity general reduced locomotor activity; reduced movement from one place to another or having a decreased state of activity
impaired avoidance learning behavior impaired ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus
abnormal progesterone level anomaly in the concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy
abnormal cecum morphology any structural anomaly of the large sac at the ileum and large intestine junction
decreased a wave implicit time decrease in the time from the onset of light stimulus to the peak of the a wave
induced chromosome breakage chromosome breakage following treatment with a DNA-damaging agent
abnormal urinary bladder neck morphology any structural anomaly of the constricted portion of the urinary bladder, formed by the meeting of its inferolateral surfaces proximal to the opening of the urethra
increased prostate gland weight greater than average weight of the gland in males that secretes part of the seminiferous fluid
kidney papillary atrophy acquired diminution of the size of the apex (tip) of a renal pyramid associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
abnormal optic pit morphology any structural anomaly of the depression found on each side of the end of the neural ectoderm (or neural tube) of the embryo; the pit deepens to form the optic vesicle
decreased circulating antidiuretic hormone level less than the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle
abnormal liver development any anomaly in the differentiation of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage
abnormal phalanx morphology any structural anomaly of any of the long bones of the digits
abnormal astrocyte number anomaly in the number of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord
absent alveolar process missing projecting ridge on the inferior surface of the body of the maxilla and mandible containing the tooth sockets
abnormal neuronal precursor cell number deviation from the normal count of the neuroblast embryonic cells that develop into nerve cells or neurons
absent testes absence of the male reproductive glands containing the germ cells
conotruncal ridge hyperplasia overdevelopment or increased size of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum
abnormal vitamin e level any anomaly in the concentration of vitamin E, tocopherol, including a series of eight structurally similar compounds; alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant
short scapula reduced length of either or both of the large, flat bones of the back part of the shoulder
abnormal auditory cortex morphology any structural anomaly in the region of the cerebral cortex that receives the auditory radiation from the medial geniculate body, a thalamic cell group receiving auditory input from the cochlear nuclei in the rhombencephalon and is responsible for processing of auditory (sound) information
decreased podocyte number reduced number of the modified epithelial cells of the visceral layer of the Bowman capsule in the renal corpuscle
aphakia absence of the crystalline lens of the eye
increased b-1b cell number
abnormal cutaneous collagen fibril morphology any structural anomaly of the connective tissue bundles in the extracellular matrix of skin tissue that are composed of collagen, and play a role in skin strength and elasticity
abnormal male reproductive gland morphology any structural anomaly of any sex gland that is part of the male reproductive system
abnormal compensatory feeding amount anomaly in the amount of food consumed after a period of fasting
decreased liver iron level reduction in the amount of iron present in the liver tissue
increased inner cell mass apoptosis increased number of cells of the blastocyst that develop into the body of the embryo undergoing programmed cell death
abnormal direction of heart looping deviation from the characteristic rightward direction of looping of the primitive heart tube; frequently seen in heterotaxy syndromes
abnormal ectoplacental cavity morphology any structural anomaly of the closed space within the ectoplacental cone, formed by the fusion of the parts of the amniotic fold that separate it from the amniotic cavity
abnormal vagina orifice morphology any structural anomaly of the median slit located inferior and posterior to the external urethral orifice in the female; the exit for menstrual flow and birth and the entrance for the penis during sexual intercourse; the size and appearance of the vaginal orifice varies inversely with that of the hymen (G. membrane), a thin fold of mucous membrane that surrounds the vaginal orifice
abnormal circulating progesterone level anomaly in the blood concentration of the antiestrogenic steroid released by the corpus luteum that stimulates the uterus to prepare for pregnancy
decreased eye pigmentation the eye has less pigmentation than normal with a possible range of color from dark red, somewhat reduced in pigment, to pink, typical of albinism or ocular albinism
increased cd8-positive, alpha-beta memory t cell number increased number of CD8-positive, alpha-beta T cells with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high
decreased urine uric acid level abnormally low amount in the urine of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine
absent anterior commissure absence of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle
abnormal lymph circulation abnormalities in the flow of the lymph from the tissues into the veins of the circulatory system
abnormal mesenchymal cell differentiation involved in lung development abnormal or arrest of differentiation of the mesenchymal cell population in the developing lung
abnormal trabecular bone connectivity density any anomaly in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures
muscle twitch minor, sometimes imperceptible, local muscle contractions or uncontrollable movement of a single muscle group served by a single motor nerve fiber or filament sometime, but not always, indicating a neurological disorder
abnormal right lung accessory lobe morphology any structural anomaly of the right lung lobe which lies against the diaphragm and has a considerable volume residing in the left hemi-thorax
abnormal circulating chloride level aberrant concentration of chlorine salts in the circulation
abnormal kidney collecting duct number anomaly in the number of any of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance
abnormal oligodendrocyte apoptosis change in the timing or the number of oligodendrocytes undergoing programmed cell death
belted the appearance of a stripe of white fur around the circumference of the abdomen
abnormal aorta wall morphology any structural anomaly of the part of the aorta that encloses the luminal space
abnormal tongue morphology any structural anomaly of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
increased susceptibility to ischemic brain injury increased frequency or more severe response, such as necrotic tissue size, to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of all or part of the brain tissue, compared to controls
abnormal liver parenchyma morphology
abnormal alpha-beta intraepithelial t cell morphology any structural anomaly of a alpha-beta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements
decreased b wave amplitude reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram
dilated heart left atrium the luminal space of the left upper chamber of the heart is increased in volume or area, usually with an increase in contained fluid
microcephaly OMIM mapping confirmed by DO. [SN].
abnormal pituitary secretion anomaly in the production and/or release of biologically active substances from pituitary tissue
dilated uterine horn an expansion in the volume or area of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet, usually with an increase in contained fluid
skeletal muscle endomysial fibrosis replacement of the layer of connective tissue that ensheaths a muscle fiber by fibrous tissue resulting in separation of individual fibers
constricted vagina orifice shrunken, narrowed external median slit located inferior and posterior to the external urethral orifice in the female
abnormal synaptic glutamate release aberrant secretion across synapses of the major excitatory neurotransmitter of the central nervous system (CNS), which acts through both ligand gated ion channels (ionotropic receptors) and G protein-coupled (metabotropic) receptors
abnormal tela choroidea morphology any structural anomaly of that portion of the brain pia mater that covers the ependymal roof or, in the case of the lateral ventricle, medial wall of a cerebral ventricle; vascularized tela choroidea is choroid plexus
abnormal spine curvature deviation from the typical S-shape of the spine
enhanced spatial learning enhanced ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues
absent popliteal lymph nodes absence of the lymph nodes which drain the legs
increased susceptibility to induction of seizure by inducing agent lower threshold to induction of seizure activity response by an agent that normally can induce uncontrolled electrical activity in the brain, producing a physical convulsion and/or minor change in physical behavior
abnormal mesenteric lymph node morphology any structural anomaly of the lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group
pulmonary epithelial necrosis morphological changes resulting from pathological death of pulmonary epithelial tissue; usually due to irreversible damage
increased gamma-delta intraepithelial t cell number greater number of a gamma-delta T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements
athymia absence of the primary lymphoid organ
kidney papillary hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the apex of the renal pyramid that normally projects into a calyx
abnormal macrophage cell number an anomaly in the number of macrophages
abnormal chief cell morphology
abnormal dendritic cell chemotaxis anomaly in the movement of a dendritic cell in response to an external stimulus
increased double-positive t cell number greater than the expected number of the subset of T cells found in the thymus that express both CD4 and CD8
abnormal heart ventricle morphology any structural anomaly of one or both of the two lower chambers of the heart
abnormal base-excision repair any anomaly in the process whereby an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate; the small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase
abnormal pulmonary pressure altered tension of the blood within the pulmonary arteries
heart right ventricle aneurysm thinning, stretching and bulging of a weakened heart right ventricular wall
impaired adaptive thermogenesis inability or reduced ability to produce heat in response to short term environmental changes, such as stress, diet or reduced temperature, often resulting in metabolic inefficiency or death
absent heart right ventricle missing the lower right chamber of the heart
uterus prolapse downward movement, and possible external appearance, of the uterus through the vagina
truncated ribs ribs that terminate abruptly as if having an end or point cut off
abnormal prostate gland size anomaly in the average size of the gland in males that secretes part of the seminiferous fluid
increased lung weight greater than average weight of the lung
abnormal trochanter morphology any structural anomaly of the bony prominences near the upper extremity of the femur; there are two in human (greater and lesser trochanters) and three in many other mammalian species (greater, lesser and third); these normally serve as attachment points for hip and thigh muscles
abnormal pelvic girdle bone morphology any structural anomaly of the bones of the pelvis by which the limbs attach to the axial skeleton
abnormal tail movements a change from the normal manner of moving the tail
increased ly6c high monocyte number increase in the number of monocytes that express high levels of Ly6C and low MHC class II that represent a subset of circulating inflammatory monocytes that are recruited to infected or inflamed tissues
increased stomach tumor incidence greater than the expected number of neoplasms in the gastric tissue usually in the form of a distinct mass, in a specific population in a given time period
trachea stenosis
abnormal tear production an anomaly in the amount of fluid produced in the eye
gonadal ridge hypoplasia underdevelopment or reduced size of the elevation of thickened mesothelium and underlying mesenchyme found on the ventromedial border of the embryonic mesonephros, usually due to reduced cell number; normally, primordial germ cells become embedded in it, establishing it as the primordium of the testis or ovary
pulmonary artery hypoplasia Underdevelopment of the pulmonary artery.
abnormal enteric neural crest cell morphology any structural anomaly of the neural crest cells that arise predominantly from the vagal region of the neural tube (vagal neural crest), adjacent to somites 1-7 and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut; neural crest cells are termed enteric neural crest-derived cells upon entering the foregut at E9-9.5 in mice (after 4 weeks gestation in humans)
abnormal pp cell physiology any functional anomaly of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas
absent tracheal cartilage rings absence of the 16-20 incomplete rings of hyaline cartilage forming the skeleton of the trachea
abnormal oval cell morphology any structural anomaly of adult liver-specific stem cells; a blast-like cell capable of self renewal and multipotent differentiation, the oval cell is capable of differentiating into mature hepatocytes or cholangiocytes
abnormal vertebral transverse process morphology any structural anomaly of the bony protrusions on either side of the arch of a vertebrae at the point where the lamina joins the pedicle, between the superior and inferior articular processes; muscles and ligaments attach to these processes
abnormal pp cell differentiation atypical production of or inability to produce the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas, and/or accumulation of PP cell precursors
belly blaze the appearance of a stripe or zigzag of white fur on the ventrum
rudimentary mullerian ducts not fully developed or remnants of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and cranial vagina
abnormal circulating factor viii level aberrant levels of the antihemophilic factor that is part of the factor VIII/von Willebrand factor complex; it is produced in the liver and acts in the intrinsic pathway of blood coagulation; it serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin
abnormal insulin secretion anomaly in the production or release of the hormone secreted by beta cells of the pancreas that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids
abnormal pubic symphysis morphology any structural anomaly of the firm fibrocartilaginous joint in the median plane between the two opposing surfaces of the pubic bones, which are united by an interpubic disc of fibrocartilage as well as the superior and arcuate pubic ligaments
type iii spiral ligament fibrocyte degeneration degeneration or loss of type III spiral ligament fibrocytes which form a cell layer attached to the otic capsule
pale liver liver lacking normal coloration, often refers to bloodless condition
abnormal popliteal lymph node morphology any structural anomaly of the lymph nodes which drain the legs
abnormal skeleton development any anomaly in the formation of bone tissue
abnormal complement protein level deviation from the normal levels, or accumulation of the proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
decreased hematocrit less than the average percentage of a volume of a blood sample occupied by red blood cells
delayed hair appearance late onset of the first appearance of the fur
tricuspid valve atresia congenital closure of the tricuspid valve
heart left ventricle hypertrophy
absent cumulus expansion complete inability of the cumulus cells to secrete an extensive extracellular matrix required for successful fertilization
abnormal extensor digitorum longus weight anomaly in the weight of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle
abnormal sphingolipid level
abnormal cerebellar granule cell proliferation
increased inflammatory response A abnormal increase in the inflammatory response to injury or infection.
purpura
abnormal myenteric nerve plexus morphology any structural anomaly of the plexus of unmyelinated nerve fibers and postganglionic autonomic cell bodies lying in the muscular coat of the esophagus, stomach and intestines that communicate with the submucosal, subserosal and enteric plexuses
retropulsion a tendency to step or walk backwards
small cranium reduced size of the cranium
enlarged vestibular saccule enlarged size of the cavity between the semicircular canals and the cochlea of the inner ear
no suckling reflex inability to orient and open/close mouth in sucking pattern in response to external light touching or stroking of the chin
abnormal ceramide level
abnormal palate morphology any structural anomaly of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate)
increased bone trabecula number increased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force
abnormal placenta weight any change in the weight of the organ of metabolic interchange between fetus and mother
abnormal olfactory bulb periglomerular cell morphology any structural anomaly of the small neuron in the glomerular layer of the olfactory bulb whose dendrites arborize within a glomerulus, where it receives synaptic input from olfactory receptor cell axon terminals, and also engages in dendrodendritic interactions with mitral and tufted cell dendrites; uses both GABA and dopamine as a neurotransmitter
pyloric stenosis
pallor Abnormally pale skin.
small lung reduced size of the lung compared to controls
abnormal gastroesophageal sphincter physiology any functional anomaly of the thick circular layer of gastric musculature encircling the gastroesophageal junction that functions to reduce backflow into the esophagus from the stomach
abnormal neuromuscular synapse morphology any structural anomaly of the membrane to membrane contact of a motor axon and a muscle myofiber that is responsible for the transmission of nerve impulses
abnormal a wave amplitude anomaly in the size (height or maximum displacement) of the a wave as measured in the electroretinogram
vasculitis A vascular disease that is characterized by inflammation of the blood vessels.
poor arterial differentiation failure of or inadequate acquisition of the characteristics and/or functions of the arteries
abnormal susceptibility to induced colitis difference in the severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS)
abnormal t cell morphology A structural T cell anomaly.
scaly ears ears covered with shedding scales or flakes
decreased glycogen level less than the normal concentration of a readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle
enlarged superior cervical ganglion increased size of the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck
increased interferon-alpha secretion increase in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells
sternum hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in the sternum
abnormal bronchial cartilage morphology any structural anomaly of the hyaline cartilaginous structures that support the bronchi, present as irregular rings in the larger bronchi (and not as regular as in the trachea), and as small plates and islands in the smaller bronchi; as the branching continues through the bronchial tree, the amount of hyaline cartilage in the walls decreases until it is absent in the smallest bronchioles
decreased epididymal fat pad weight less than average weight of the encapsulated adipose tissue associated with the epididymis
abnormal oligodendrocyte morphology any structural anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS
increased grooming behavior increased amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring)
abnormal hair shedding anomaly in the hair cycle changes the timing of the hair loss that normally follows the anagen phase
abnormal skeletal muscle fiber type ratio deviation from the standard ratios of fiber types in a given skeletal muscle compared to control samples
absent parotid gland absence of the largest of the major salivary glands situated below and in front of each ear
decreased follicular b cell number reduced number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes
decreased bone strength reduced ability of bone to endure the application of force without yielding or breaking
abnormal pancreatic islet morphology any structural anomaly of the clusters of hormone-producing cells that are scattered throughout the pancreas
abnormal cerebellum vermis lobule iv morphology The culmen lobule (lobules IV/V) is a single structure in humans, but it is divided by the intraculminate fissure in many rodents. In some mouse strains such as SLJ/J, the intraculminate fissure is absent, in some strains such as DBA/2J it is present, and other strains (C57BL/10J and BALB/cJ) exhibit considerable variablility (PMID: 1953602).
abnormal endocrine pancreas morphology any structural anomaly of the smaller portion of the pancreas that secretes a number of hormones into the blood stream that are produced by the cells in the islets of Langerhans
abnormal abdominal fat pad morphology any structural anomaly of the encapsulated adipose tissue in the abdomen
increased gonad tumor incidence greater than the expected number of an abnormal rapidly proliferating cells in the testis or ovary, usually in the form of a distinct mass, occurring in a specific population in a given time period
increased trophoblast glycogen cell number greater number of the glycogen-accumulating trophoblast cells that arise in the junctional zone of the placenta
abnormal spike wave discharge anomaly in the characteristic epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy
abnormal outflow tract development anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery and the ventricular outflow regions
increased dn2 thymocyte number increased number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive
abnormal pituitary gland apoptosis change in the timing or the number of any pituitary gland cells undergoing programmed cell death
increased skin papilloma incidence
otic capsule hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the cartilage or bony capsule surrounding the inner ear mechanism
abnormal kidney copper level an anomaly in the amount of copper present in kidney tissue
absent organized vascular network formation of vasculature, but failure to differentiate into stereotypic organized pattern
disorganized retinal ganglion layer derangement of the pattern of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain
abnormal t-helper 17 cell physiology any functional anomaly of a CD4-positive, alpha-beta T cell with the phenotype RORgamma-t-positive that produces IL-17
abnormal cranial ganglia morphology any structural anomaly of the groups of nerve cell bodies associated with the twelve cranial nerves
altered response to cns ischemic injury altered response to lack of adequate blood flow, due to trauma or disease, to support the normal functioning of a tissue in the central nervous system
increased inguinal fat pad weight greater than average weight of the encapsulated adipose tissue found in the groin
abnormal corpora quadrigemina morphology any structural anomaly of the inferior and superior colliculus
retina hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in the thin layer of neural tissue lining the back of the eyeball which contains visual receptors
abnormal lung adenoma incidence an anomaly in the expected number of a benign epithelial neoplasm with a glandular organization arising in the lung, occurring in a specific population in a given time period
increased susceptibility to prion infection increased likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is a major and necessary component
facial cleft A congenital malformation with a cleft (gap or opening) in the face.
ear inflammation local accumulation of fluid, plasma proteins and leukocytes in the ear
abnormal hair follicle bulb morphology any structural anomaly of the thickened portion of the proximal portion of the hair follicle that contains rapidly proliferating matrix cells, melanocytes and outer root sheath cells
abnormal urinary system development any anomaly in the differentiation of the organ system that produces, stores, and eliminates urine
decreased fibroblast proliferation reduction in the expansion rate of a fibroblast cell population by cell division
myocardial hypertrophy an increase in size of the myocardium, not due to increased cell number
late onset of menarche the onset of menstrual cycles occurs at a later age than normal
abnormal skin physiology any functional anomaly of the membranous protective covering of the body
abnormal primitive streak elongation any anomaly in the process by which the primitive streak extends anteriorly and elongates towards the distal (cranial) end of the embryo to reach its full length
increased cd4-positive, alpha beta t cell number greater number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production
abnormal trabecular meshwork morphology any structural anomaly in the pore-like structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates
decreased peyer's patch number reduction in the number of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles
otosclerosis Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs.
cortical cataracts a lens opacity, frequently punctate, affecting the lens cortex in which spokes or wedges progressively extend from the outside of the lens towards the center
abnormal enamel morphology any structural anomaly of the hard outer coating of the exposed portion of the tooth
enlarged adrenal glands Enlargement of the adrenal gland.
abnormal polar body morphology any structural anomaly of one of the small cells that are produced during the development of an oocyte and ultimately degenerate; a polar body contains one of the nuclei derived from the first or second meiotic division but little or no cytoplasm
abnormal circulating lipid level
abnormal kidney calyx morphology any structural anomaly of any of the branches of the renal pelvis that surround each renal papilla and collect urine
impaired synaptic plasticity decrease or inability of a synapse to change its strength as a result of successive activations
abnormal natural killer cell mediated cytotoxicity any anomaly in the process of directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors
abnormal feces composition increase or decrease in the amount of compounds normally found in the feces (fat, protein etc) or presence of material not normally seen in the feces
reduced activated sperm motility loss or reduction of the activated type of sperm mobility, resulting in immotile sperm that are generally unable to reach the uterotubal junction; decreases in activated sperm motility may result in reduced male fertility
abnormal lymphatic vessel endothelial cell morphology any structural anomaly of the cells that line the lymphatic vessels
gastric hypertrophy Hypertrophy of the stomach.
atrioventricular block A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
decreased dn3 thymocyte number reduced number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain.
enlarged thyroid gland
increased seminal vesicle weight increase in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens
abnormal lymph node medullary cord morphology any structural anomaly of the dense rope-like structures of lymphatic tissue located between the medullary sinuses in the medulla of a lymph node
abnormal granulocyte morphology any structural anomaly of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils
abnormal bile salt level anomalous concentration of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats
abnormal brunner's gland morphology any structural anomaly of the branched acinotubular glands found in the submucosa of the duodenum located above the Sphincter of Oddi; their main function is to produce a mucus-rich alkaline secretion (containing bicarbonate) to protect the duodenum from the acidic content of chyme, provide an alkaline condition for the intestinal enzymes to be active (thus enabling absorption to take place), and lubricate the intestinal walls; they also secrete urogastrone, which inhibits parietal and chief cells of the stomach from secreting acid and their digestive enzymes
pulmonary interstitial fibrosis formation of fibrous tissue within the interstices of the lung as a result of repair or a reactive process
abnormal colon morphology any structural anomaly of the portion of the large intestine between the cecum and the rectum
abnormal peritoneal macrophage morphology any structural anomaly of a mononuclear phagocyte that develops from bone marrow precursors but is resident in the peritoneum
blepharitis An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow.
thin external granule cell layer reduced thickness of the transient layer of the cerebellar cortex present during development which is composed of dividing and migrating granule cells
increased klrg1+ cd8 alpha beta t cell number increase in the number of CD8+ alpha beta T cells that express KLRG1, a marker of effector and memory T cells
abnormal female urethra morphology any structural anomaly of the short and relatively simple female fibromuscular tubular canal which extends from the urinary bladder outlet to the perineum adjacent to the anterior wall of the vagina, and opens in the vestibule of the vagina posterior to the clitoris and anterior to the vaginal orifice; small mucus urethral glands (Skene's glands) open along its entire length and drain into a single paraurethral duct, which empties at the lateral margin of the external urethral orifice: its epithelial lining changes from transitional epithelium at the bladder end to non-keratinizing stratified squamous epithelium distally
abnormal interleukin level deviation from the normal levels of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types; they enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli
abnormal olfactory bulb subventricular zone morphology any structural anomaly of the region of mitotically active layer of cells surrounding the lateral brain ventricles that consists of migrating neuroblasts, astrocytes and transitory amplifying progenitor cells, that produce neurons that migrate to the olfactory bulb
abnormal optic canal morphology any structural anomaly of the short canal through the orbitosphenoid bone at the apex of the orbit that gives passage to the optic nerve and the opthalmic artery
increased heart right ventricle weight greater than average weight of the right ventricle compared to the average
decreased thymus weight reduction in the average weight of the primary lymphoid organ that is required for maturation of T cells
abnormal vitamin homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of organic substances found in food and are not synthesized by the body and are necessary in trace amounts for normal metabolic function
abnormal circulating cholesterol level anomaly in the amount in the blood of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues
abnormal hypothalamus physiology An abnormal functionality of the hypothalamus.
prostate gland hypoplasia underdevelopment or reduced size of the prostate, usually due to a reduced number of cells
abnormal umbilical cord morphology any structural anomaly of the connective stalk between the fetus and the placenta
increased nerve conduction velocity increase in the rate at which an electrical impulse travels through a nerve
abnormal locomotor activation altered ability or desire of an animal to initiate locomotor activity
abnormal vitelline artery morphology any structural anomaly of the paired arteries that carry blood to the yolk sac from the dorsal aorta; the vitelline arteries give rise to the celiac artery, superior mesenteric artery, and inferior mesenteric artery in the adult
abnormal dorsal spinal root morphology any structural anomaly of the posterior bundle of nerves emerging from the spinal cord to join with the anterior/ventral nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves
abnormal innervation the malformation, misprojection, abnormal fasciculation or abnormal refinement of the connection, of nerve fibers to a target
decreased embryonic neuroepithelial cell proliferation decrease in the expansion rate of the cells of the embryonic neuroepithelium by cell division
abnormal bowman membrane any structural anomaly of the layer of acellular matrix that lies beneath the corneal epithelium and above the corneal stroma, consists of randomly arranged collagen fibers in a condensed bed of intercellular substance, and provides stability and strength to the cornea
abnormal b cell proliferation anomaly in the ability of the B cell population to undergo rapid expansion by cell division in response to stimuli
abnormal mean corpuscular hemoglobin
abnormal susceptibility to hearing loss anomaly in the sensitivity to loss of hearing related to age or environmental factors
abnormal circulating plant sterol level anomaly in the amount of phytosterols in the blood; commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol
rib fractures a crack or break in the bones forming the bony wall of the chest
abnormal enzyme/coenzyme activity An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme.
increased lymphoma incidence greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period
decreased igg3 level less than normal immunoglobulin class G3 level
decreased white adipose tissue amount reduced quantity of fat-storing cells/tissue
abnormal vascular endothelial cell differentiation anomaly in the process whereby a relatively unspecialized cell acquires specialized features of an endothelial cell
enhanced contextual conditioning behavior increase in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)
abnormal retinal cone cell outer segment morphology any structural anomaly of the retinal cone cell region in which the visual pigment rhodopsin is in invaginations of the cell membrane
abnormal naive b cell morphology any structural anomaly of a mature B cell which has not yet been activated by antigen
abnormal habituation to a novel object anomaly in the process in which there is a progressive decline of behavioral response probability with an exposure to a novel object
abnormal tricuspid valve morphology any structural anomaly of the valve located between the right atrium and the right ventricle of the heart, and contains three cusps, the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp), attached to the outer fibrous ring (anulus)
abnormal compact bone thickness reduced or increased width of the superficial layer of compact bone
absent somatotroph secretory granules absence of vesicles derived from the golgi that contain somatotropin growth hormone to be released at the cell surface
absent parietal bone absence of the curved bone forming part of the vault of the cranium
increased mammary fat pad weight greater than average weight of the encapsulated adipose tissue associated with the mammary gland
enlarged corneocyte envelope increased size of the electron-dense layer of highly transglutaminase cross-linked protein that is deposited on the inner surface of the plasma membrane of corneocytes in the outermost layers of the epidermis
increased qrs amplitude increased in the size (height or maximum displacement) of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction, suggesting ventricular excitation defects
hypochlorhydria reduced hydrochloric acid content of the gastric secretions
skin fibrosis invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury
abnormal placenta labyrinth morphology any structural anomaly of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood, and is the site where the exchange of nutrients and waste products occurs between the maternal and fetal circulation
abnormal cerebellum vermis lobule x morphology
abnormal erythrocyte morphology any structural anomaly of a mature red blood cell, an ennucleate biconcave disk about 7 micrometers in diameter that contains hemoglobin confined within a lipid membrane; it is the major cellular element of the circulating blood and transports oxygen as its principal function
decreased circulating angiotensinogen level less than normal concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I
abnormal circulating glycerol level abnormal blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source
abnormal ependyma motile cilium morphology any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain and the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid around the central nervous system
absent cd8-positive, alpha-beta t cells lack of the set of single-positive T cells that express CD8 on their surface
abnormal percent body fat more or less fat, relative to controls, as a percentage of total body weight
abnormal platelet atp level anomaly in the amount of the major energy source adenosine triphosphate produced by dense bodies located in platelets
absent midbrain
abnormal nerve fiber response anomaly in the electrophysiological recordings from a single or several nerve fiber(s)
decreased triglyceride level reduced concentration of naturally occurring esters of three fatty acids and glycerol; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver
abnormal catalase activity anomaly in the ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O
abnormal circulating thyroxine level anomaly in the blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism
abnormal cumulus expansion anomaly in the ability of the cumulus cells to synthesize and accumulate hyaluronan into an extracellular matrix (ECM), which provides an essential microenvironment for oocyte fertilization; this expanded ECM binds the oocyte and the cumulus cells together, protects the oocyte from the proteolytic and mechanical stresses during extrusion, and allows sperm binding, penetration, and fertilization
hyperpigmentation excess of pigment in any or all tissues or a part of a tissue
short scala media reduced length of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani
abnormal stomach wall morphology any structural anomaly of the layered structure that makes up the stomach, consisting of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between
abnormal urethra morphology any structural anomaly of the fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening
abnormal mesonephric mesenchyme morphology any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing mesonephros
abnormal vestibular system physiology any functional anomaly of the sensory system responsible for the sense of head position and movement of the body through space; such anomalies may result in impaired balance, dizziness, poor regulation of postural muscle tone and inability to detect quick movements of the head
abnormal retinal melanin granule morphology any structural anomaly of the pigment particles in the retina
abnormal pulmonary endothelial cell surface altered morphology or area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell
abnormal strial basal cell morphology any structural anomaly in the polarized cells which are juxtaposed to fibrocytes in the underlying spiral ligament
abnormal circulating leptin level anomaly in the blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance
absent cerebellum vermis lobule viii missing part of the inferior vermis of the cerebellum (vermis lobule VIII)
increased liver iron level increase in the amount of iron present in the liver tissue
abnormal circulating antidiuretic hormone level deviation from the normal concentration of the peptide hormone in the blood that is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle
decreased interleukin-13 secretion reduction in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses
increased parotid gland size increased size of either of the largest of the major salivary glands situated below and in front of each ear
thymus hypoplasia Underdevelopment of the thymus.
abnormal palpebral conjunctiva morphology any structural anomaly of the thin transparent mucous membrane that covers the posterior surface of the eyelids and is continuous with the bulbar conjunctiva at the conjunctival fornicies
abnormal x-y chromosome synapsis during male meiosis an anomaly in the process in which the side by side pairing and physical juxtaposition of X and Y chromosomes is created at the metaphase plate, usually resulting in incorrect sex chromosome disjunction
small stomach reduced size of the stomach
large ureter
abnormal kidney physiology
abnormal stomach position or orientation the stomach is displaced from the normal left-sided position and/or orientation
increased mesothelioma incidence greater than the expected number of neoplasms derived from the lining cells of the pleura and peritoneum, in a specific population in a given time period; is composed of spindle cells or fibrous tissue which may enclose glandlike spaces lined by cuboidal cells
abnormal cartilage morphology Any abnormality of cartilage.
decreased parametrial fat pad weight less than average weight of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament
shortened pq interval decrease in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave
abnormal motor learning anomaly in the ability to repeat a motor task requiring well coordinated movements and balance; measures cerebellar dependent learning
abnormal spinal reflex any anomaly in the reflexive action mediated by cells of the spinal cord, or the involuntary movement reaction caused by the application of a stimulus to an organism; these include signals originating from heat from burning, sharp sensations, and other painful feelings
decreased length of allograft survival compared to controls, a reduced length of time that transplanted tissue, in which the donor and recipient are genetically similar (same species) but not genetically identical, retains function and/or remains alive
increased white fat cell size increase in the size of fat cells with light coloration and few mitochondria
absent coronary sinus absence of the short trunk that recieves most of the cardiac veins carrying the blood from the myocardium and delivers it to the right atrium
increased t follicular helper cell number greater number of the CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cells located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production
holoprosencephaly A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.
parthenogenesis development of an egg into a diploid embryo without being fertilized
epidermal spongiosis intercellular edema within the epidermis
abnormal hindbrain development anomaly in the formation or pattering of the caudal region of the brain
abnormal primary cilium physiology any functional anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors
decreased schwann cell precursor number fewer numbers than normal of the progenitors of cells that sheath the axons of the peripheral nervous system
decreased liver triglyceride level reduced concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liverower than normal concentration of triacylglycerols in the liver
absent lateral ventricles absence of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; lateral ventricles are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle
decreased circulating triglyceride level reduced concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver
abnormal dendritic cell number anomaly in the number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation
abnormal immune organ physiology any functional anomaly of the organs of the immune system
decreased susceptibility to hepatic steatosis less likely than normal to develop hepatic steatosis
increased neuronal precursor cell number increased number of the neuroblast embryonic cells that develop into nerve cells or neurons
cardiac valve regurgitation the backward reflux of blood through a cardiac valve, due to insufficiency caused by disease, aging or congenital malformation
absent notochord missing axial fibrocellular cord in embryos around which develops the vertebral primordia
impaired lung lobe morphogenesis failure to form any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung
abnormal embryogenesis/ development anomaly in the establishment of the characteristic configuration of the embryonic body
uterus inflammation local accumulation of fluid, plasma proteins, and leukocytes in the uterus
vitreal fibroplasia production of excess fibrous tissue in the vitreous body of the eye
delayed parturition the process of labor and delivery in female animals occurs later in gestation than expected or lack of progress in a labor already initiated
abnormal thymocyte activation anomaly in the process of producing activated thymocytes from naive thymocytes
failure of ejaculation inability to propulse semen from the genital ducts and the urethra to the exterior within a defined test period
abnormal mechanical nociception abnormal capability to sense pain elicited by mechanical stimulation
increased acute lymphoblastic leukemia incidence
weaving momentary, slow motions of the whole body from side to side sometimes followed by a sudden drop from an erect position
abnormal pretectal region morphology any structural anomaly of a narrow, transversely oriented rostral zone of the mesencephalic tectum, bounded caudally by the superior colliculus, rostrally by the habenular trigone, and laterally by the pulvinar thalami; the pretectal area contains several nuclei that receive fibers from the optic tract; it has bilateral efferent connections with the Edinger-Westphal nucleus of the oculomotor nuclear complex by way of which it mediates the pupillary light reflex
increased kidney iron level increase in the amount of iron present in the renal tissue
abnormal pituitary gland development malformation or incomplete differentiation of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin
abnormal otolithic membrane morphology any structural anomaly of the gelatinous membrane which is supported by the stereocilia of the hair cells of the maculae of the saccule and utriculus of the inner ear; adhering to its surface are numerous calciferous crystalline particles called otoliths (statoconia)
absent mandibular nerve missing third division of the trigeminal nerve
abnormal offspring retrieval any anomaly in the ability of a female to collect stray offspring and return them to a defined location, such as a nest or den
vitreous body deposition abnormal accumulation of material in the vitreous body
epididymis degeneration pathological deterioration of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens
meteorism condition in which excess gas accumulates in the gastrointestinal tract or peritoneal cavity, often resulting in abdominal distention, excess flatulence and/or belching
decreased angiogenesis reduced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network
abnormal chondrocyte physiology any functional anomaly of nondividing cartilage cells
decreased mesenchymal cell proliferation involved in lung development reduction in the expansion rate of a lung mesenchymal cell population by cell division
small ovary reduced size of the female reproductive gland containing the germ cells
ureter urothelium hyperplasia overdevelopment or increased size, usually due an increased number of cells, of the luminal epithelium of the tube that conducts the urine from the renal pelvis to the bladder
pancreas hyperplasia
abnormal transitional stage b cell morphology any structural anomaly of an immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection
abnormal sensitivity to induced morbidity/mortality anomaly in the amount of an external agent required to cause death or diseased state
increased circulating glucose level greater than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source
impaired behavioral response to addictive substance decreased sensitivity to an addictive substance capable of inducing the appearance of behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response
increased heart rate variability increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle
decreased type ii pneumocyte number reduced number of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored
no swallowing reflex inability to pull food through the esophagus to the stomach in response to feeding
short trachea reduced length of the tube descending from the larynx and branching into the right and left main bronchi
abnormal stomach squamous epithelium morphology any structural anomaly of the scaly epithelial layer of the stomach
wavy neural tube undulations in the embryonic neural tube
echinocytosis a state in which the red blood cells have multiple small projections appearing over the cell circumference resembling a small burr or a sea urchin
decreased foot pigmentation visually detectable dilution of pigment present on the foot surface
increased curvature of hairs greater bending arch of the distinct C- or S- shaped curvature of the hairs
fused kidneys a defect in which there is a single malformed organ resulting from partial or complete fusion of the two renal anlage
abnormal circulating insulin-like growth factor i level anomalous blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities
arched palate abnormally concaved shape to the roof of the oral cavity
absent inguinal lymph nodes absence of the lymph nodes normally located in the groin area
decreased brain copper level a reduced amount of copper in the brain tissue compared to controls
persistent cloaca Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.
increased fetal derived definitive erythrocyte cell number increased number of fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins
abnormal urinary bladder urothelium morphology any structural anomaly of the epithelial lining of the luminal space of the urinary bladder
abnormal respiratory system physiology any functional anomaly of the pulmonary system; inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment
abnormal aortic valve morphology any structural anomaly of the valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle, and contains three cusps, the posterior (non-coronary), right anterior and left anterior cusps, attached to an outer fibrous ring (annulus)
urethra obstruction
abnormal nasopharynx morphology any structural anomaly of the section of the pharynx that lies above the soft palate
increased cell death increased occurrence of the cessation of function at the cellular level
abnormal lipid oxidation anomaly in the process of removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen
epidermal necrosis morphological changes resulting from pathological death of the epidermal layer of skin; usually due to irreversible damage
ureteral reflux retrograde movement of urine from the bladder to the kidney
enlarged gonial bone increased size of the investing bone that lies on the surface of the malleus
oxidative stress condition characterized by an accumulation of free radical groups in the body, which creates a potentially unstable and damaging cellular environment linked to tissue damage, accelerated aging, and degenerative disease; can result from many factors, including exposure to alcohol, medications, poor nutrition, trauma, cold or toxins; may be indicated by low antioxidant levels measured in blood plasma
abnormal spleen development aberrant formation or incomplete differentiation of the organ that filters blood and stores red corpuscles and platelets
rickets A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone.
long toenails increased length of the toenails
anovaginal fistula an abnormal anatomical passage that connects the anal canal and the vagina
increased circulating alanine transaminase level increased concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction
flat head the appearance of a flattened surface outline or contour of a normally rounded head of an organism
abnormal plasma cell differentiation atypical production of or inability to produce terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin
abnormal respiratory mucosa morphology any structural anomaly of the mucous membrane lining the respiratory tract
abnormal airway resistance anomaly in the opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow
decreased carbon dioxide production reduction in the rate at which carbon dioxide leaves the blood and enters the alveolar gas
decreased response to stress-induced hyperthermia reduction or absence of the expected increase in core body termperature in response to stress or anticipatory anxiety
increased vertebrae number
abnormal oxygen level any anomaly in the concentration of the gaseous element that is essential for animal and plant life
abnormal vestibulocochlear ganglion morphology any structural anomaly of the group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia
abnormal juxtaglomerular apparatus morphology any structural anomaly of the complex of modified smooth muscle cells consisting of juxtaglomerular cells, extraglomerular mesangium lacis cells, the macula densa of the distal convoluted tubule, and granular epithelial peripolar cells; these cells are found in the walls of afferent and efferent glomerular arterioles
abnormal paraxial mesoderm morphology any structural anomaly of the mesoderm located bilaterally adjacent to the notochord and neural tube; on segmentation, paraxial mesoderm forms the paired somites
iris hypoplasia Congenital underdevelopment of the iris.
ruptured lens capsule a break or tear in the elastic, clear, membrane-like structure, that is outer most layer of the lens
short estrus decrease in the length of the estrous phase of the estrous cycle in female animals
hydrometra an accumulation in the uterine lumen of normal secretions that ordinarily drain from the body but are retained when the cervix or vagina is significantly or completely closed
abnormal sternum body morphology any structural anomaly of the middle and longest portion of the sternum, lying between the manubrium superiorly and the xiphoid process inferiorly; the body of the sternum (gladiolus), is considerably lengthier, narrower, and thinner than the manubrium, attaining its greatest breadth close to the lower end
abnormal susceptibility to weight gain anomaly in body weight over time when compared to the average increase in weight on the same diet, with equal energy (calorie) intake
small tectum reduced size of the rostral part of the midbrain roof
abnormal cochlear ohc afferent innervation pattern any changes in the morphology, placement or number of afferent terminals and/or their synapses in the cochlear OHC region
abnormal gut flora balance anomaly in the ratio of microorganisms that live in the digestive tracts of animals, many of which perform symbiotic functions to the host
absent vestibulocochlear nerve absence of the composite sensory nerve innervating the receptor cells of the membranous labyrinth
decreased transforming growth factor level reduced concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function
abnormal cochlear hair cell number abnormal number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve
abnormal urine ph any anomaly in urinary pH, indicating alterations in urine acidity or alkalinity
increased ovary tumor incidence greater than the expected number of neoplams in the ovary occurring in a specific population in a given time period
abnormal female reproductive gland morphology any structural anomaly of any sex gland that is part of the female reproductive system
osteopetrosis An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
increased anti-histone antibody level elevated level of antibodies to histones present in the sera
failure of intramembranous bone ossification failure to initiate or a block in the process of the formation of bone in which osteoblasts secrete a collage-proteoglycan matrix that binds calcium salts and becomes calcified; intramembranous ossification is the way flat bones are formed
abnormal bone mineralization defect in the process by which minerals are deposited into bone