MGI Mouse Phenotype Associations 2023 Dataset

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 2023 Aug 23
Stats
  1. 12894 genes
  2. 10234 phenotypes
  3. 201654 gene-phenotype associations

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phenotype Gene Sets

10234 sets of gene mutations causing phenotypes in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Gene Set Description
liver hypoplasia underdevelopment or reduced size of the liver, usually due to a reduced number of cells,
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
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 trigeminal ganglion morphology any structural anomaly of the group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve)
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
abnormal erythropoiesis atypical process of the formation of enucleated fetal and adult erythrocytes
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 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
hypoxia reduced oxygenation of body tissues resulting in the decreased pressure of this component of body gases; commonly due to hypoxemia
abnormal lens fiber morphology any structural anomaly of the elongated cells of the crystalline lens of the eye
abnormal lens development aberrant formation of the transparent structure of the eye responsible for focusing light rays
abnormal cell cycle failure to progress or abnormal progression through the stages of the cell cycle
increased neuron apoptosis increase in the number of neurons undergoing programmed cell death
pallor Abnormally pale skin.
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 placental transport anomaly in the conveyance of metabolic products and nutrients across the placenta
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
increased lens fiber apoptosis increase in the number of lens fibers cells undergoing programmed cell death
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
abnormal neuron differentiation abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses
embryonic lethality during organogenesis, complete penetrance 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)
increased fibroblast proliferation greater the expansion rate of a fibroblast cell population by cell division
abnormal blood vessel morphology any structural anomaly of the network of tubes that carries blood through the body
abnormal vascular regression premature regression or persistence of vessels programmed to regress and/or loss of vessels not programmed to regress
arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.
embryonic growth retardation slow or limited development during the embryonic period (sensu Mus: up to E14, or the completion of organogenesis)
abnormal vitelline vascular remodeling anomaly in the conversion of the primary (honeycomb-like) vascular plexus of the yolk sac into a mature vascular network
abnormal anterior cardinal vein morphology any structural anomaly of the two paired veins draining the cephalic part of the body
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 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
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
embryonic lethality between somite formation and embryo turning, complete penetrance 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)
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
abnormal developmental patterning abnormal systematic arrangement of the developing body along an axis
abnormal neural tube morphology any structural anomaly 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)
abnormal gastrulation any anomaly in the development and invagination of the embryonic germ layers
abnormal brain development aberrant or incomplete differentiation of the brain
abnormal primitive streak formation anomaly in the establishment of the midline ridge of embryonic epiblast that later develops into mesoderm and endoderm
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
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
abnormal allantois morphology any structural anomaly fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels
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
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
abnormal axial mesoderm morphology 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 notochord morphology any structural anomaly of the axial fibrocellular cord in embryos around which develops the vertebral primordia
impaired somite development atypical process of somite formation with the result of fewer or none of these cell masses being formed
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
absent midbrain
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
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)
rostral body truncation rostral part of body truncated; typically with the caudal portion of the body relatively normal
absent prechordal mesoderm absence of or failure to form the area of axial mesoderm that develops into the prechordal plate
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 visceral yolk sac endoderm morphology any structural anomaly of the portion of the visceral yolk sac consisting of endoderm-derived cells that is responsible for absorption of nutrients
abnormal visceral yolk sac mesenchyme morphology any structural anomaly of the portion of the visceral yolk sac that is derived from mesoderm and consists of mesenchyme
postaxial polydactyly duplication of all or part of any of the rays except the first ray on one or more of the autopods
abnormal extraembryonic tissue morphology any structural anomaly of the membranes involved with embryonic protection and nutrition
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
decreased trophoblast giant cell number fewer than normal number of cells of the extraembryonic cell layer that contributes to the 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 trophoblast giant cell morphology anomaly of the cells covering the blastocyst that erode the uterine mucosa and contribute to the formation of the placenta
abnormal chorion morphology any structural anomaly of the outermost extraembryonic membrane
absent placental labyrinth absence of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood
disorganized embryonic tissue a lack of the regular arrangement of any embryonic tissues
absent chorion absence of the outermost extraembryonic membrane
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
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
abnormal lymphatic vessel morphology any structural anomaly of the network of vessels which carries lymph around the body
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
abnormal foot pad morphology any structural anomaly of the body of fat on the foot
hydrops fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
abnormal B cell differentiation atypical production of or inability to produce mature B cells, and/or accumulation of B cell precursors
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
intracerebral hemorrhage bleeding within the cerebrum
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
lymphatic vessel hyperplasia overdevelopment or increased size, usually due an increased number of cells in lymphatic vessels
dilated vasculature stretched or widened aperture of the luminal space of the network of tubes that carries blood through the body
abnormal lymphangiogenesis any anomaly in the formation of lymphatic vessels from pre-existing lymphatic vessels
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
enlarged lymphatic vessel increased size of the network of vessels which carries lymph around the body
postnatal lethality, complete penetrance 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)
abnormal cardiovascular system morphology any structural anomaly of the heart or vascular tissue
abnormal mouth morphology any structural anomaly of the oral cavity
abnormal muscle morphology any structural anomaly of the contractile tissue that produces movement in animals
absent salivary gland missing any of the saliva-secreting glands of the oral cavity
thymus hypoplasia decrease in the number of normal cells in normal arrangement in the thymus, typically resulting in decreased size
abnormal outer ear morphology any structural anomaly of any components of the auricles or external acoustic meatus
mandible hypoplasia
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
double outlet right ventricle OMIM mapping confirmed by DO. [SN].
cleft chin incomplete fusion of the chin; usually a fissure
overriding aortic valve
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
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 mandibular nerve branching malformed or misprojected axons of the mandibular nerve
persistent truncus arteriosis
abnormal middle ear ossicle morphology any structural anomaly of the three small bones of the middle ear
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 skeleton morphology any structural anomaly of the bony framework of the body in vertebrates
ectopic thymus
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 tympanic ring missing the bony ring at the ear canal to which the tympanic membrane is attached
patent ductus arteriosus OMIM mapping confirmed by DO. [SN].
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)
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 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
absent stapes Aplasia of the stapes.
absent incus absence of the middle of the three auditory ossicles
absent malleus Aplasia of the malleus.
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
small zygomatic bone reduced size of the quadrilateral bone that forms the prominence of the cheek
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
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
small second pharyngeal arch reduced size of the second branchial arch
absent submandibular gland absence of either of the large major salivary glands situated beneath the mandible
tongue hypoplasia
perimembraneous ventricular septal defect
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
aorta tubular hypoplasia a diffuse narrowing of the lumen of the aorta
interrupted aorta complete discontinuation or blockage in the aorta
perinatal lethality, complete penetrance death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)
absent tubotympanic recess absence of the elongate recess derived from the first pharyngeal pouch; its distal part contributes to the formation of the tympanic membrane, its proximal part elongates to form the auditory tube, and its cavity gives rise to the tympanic cavity and mastoid antrum
abnormal nose morphology any structural anomaly of the organ that is specialized for smell and is part of the respiratory system
respiratory failure A lung disease characterized by inadequate gas exchange by the respiratory system.
anophthalmia Absence of the globe or eyeball.
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 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.
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
small thalamus decreased size of the thalamus
abnormal ventral interneuron 1 morphology any structural anomaly of the ventral interneurons that appear to control burst durations and are characterized by expression of En1, Foxd3, Dbx2, Pax6, and Irx3
abnormal vascular development aberrant process of vascular formation
thin ventricular wall decreased depth of the cardiac wall of the heart ventricles
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
abnormal vitelline vasculature morphology any structural anomaly of the vascular network that supplies the yolk sac
abnormal vascular endothelial cell development anomaly in the differentiation of the cells that line the vasculature
abnormal endocardium morphology any structural anomaly of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the heart
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
abnormal mandible morphology any structural anomaly of the lower bony framework of the mouth where the inferior teeth are held
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
abnormal nasal septum morphology any structural anomaly of the structure that separates the two nasal cavities
abnormal vomer bone morphology any structural anomaly of the triangular flat bone of the nasal septum
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
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
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
decreased tympanic ring size smaller than average tympanic ring
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
small pterygoid bone reduced size of the bone region which corresponds to the inner plate of the pterygoid process of the mammalian skull
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
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 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
abnormal nasal capsule morphology any structural anomaly in the cartilage around the developing nasal cavity of the embryo
small malleus manubrium reduced size of the handle of the malleus
absent gastric milk in neonates failure of nursing offspring to ingest milk as indicated by stomach content
decreased birth body size reduction in average body size at birth compared to controls
absent external auditory canal
neonatal lethality, complete penetrance death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)
abnormal horizontal basal cell of olfactory epithelium morphology any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the basal lamina of olfactory epithelium
absent ethmoturbinates absence of the conchae of the ethmoid bone which normally occupy the caudal part of the nasal fossae and form the lateral and superior portions of the turbinate bones in mammals
abnormal epitympanic recess morphology any structural anomaly of the upper portion of the tympanic cavity located above the tympanic membrane; it contains the head of the malleus and the body of the incus
abnormal intrinsic tongue muscle morphology any structural anomaly of any of the four paired muscles that originate and insert within the tongue, running along its length; these muscles alter the shape of the tongue by lengthening and shortening it, curling and uncurling its apex and edges, and flattening and rounding its surface; they include the superior longitudinal muscle, the inferior longitudinal muscle, the vertical muscle, and the transverse muscle
small vomer bone reduced size of the triangular flat bone of the nasal septum
small mandibular coronoid process reduced size of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion)
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 cranium morphology any structural anomaly of the bones of the head
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
abnormal maxilla morphology any structural anomaly of the upper bony framework of the mouth where the superior teeth are held
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.)
abnormal eye development malformation or arrest of differentiation of the visual organ
edema An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
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 tooth development any anomaly in the formation of the teeth
polydactyly
syndactyly A synostosis that results_in the fusion of two or more digits.
exencephaly neurocranial defects resulting in exposure or extrusion of the brain
abnormal ear position anomaly in the space between or the placement of the outer ears
incomplete rostral neuropore closure arrest of the fusion of the cephalic neural folds
absent neurocranium missing bones of the skull enclosing the brain
short tibia Underdevelopment (reduced size) of the tibia.
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
abnormal craniofacial development anomaly in the process of forming the face and/or cranium
short humerus Underdevelopment of the humerus.
short radius reduced length of the short bone of the lateral forearm
short ulna reduced length of the medial and larger of the two bones of the forearm
abnormal embryonic autopod plate morphology any structural anomaly of transient developing limb structure that forms by expansion of the distal end of the limb paddle and will give rise to the pedal appendages (e.g. hand, foot, paw)
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)
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
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 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
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
prenatal lethality, incomplete penetrance 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 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
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
pulmonary hypoplasia
decreased lung weight reduced average weight of the lung
abnormal tracheal cartilage morphology any structural anomaly of the cartilaginous structures that support the trachea
abnormal esophagus development aberrant formation of the part of the digestive canal through which food passes from the pharynx to the stomach
abnormal esophageal smooth muscle morphology any structural anomaly of the nonstriated, involuntary muscle tissue lining the esophagus
small lung reduced size of the lung compared to controls
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
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
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
esophagus hypoplasia underdevelopment or decreased size of the esophagus, usually due a reduced number of cells
trachea hypoplasia underdevelopment or reduced size of the trachea, usually due a reduced number of cells
trachea stenosis
esophagus stenosis
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
decreased mesenchymal cell proliferation involved in lung development reduction in the expansion rate of a lung mesenchymal cell population by cell division
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
anemia A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.
embryonic growth arrest the cessation of development beyond a particular stage
abnormal mesendoderm development failure or abnormality in the formation of the embryonic cell layer that gives rise to both the endoderm and mesoderm
absent heart absence of the hollow, muscular organ that maintains the circulation of the 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 anterior head development any anomaly in the process in which the anatomical structures of the anterior part of the head are generated and organized
herniated abdominal wall
abnormal parietal bone morphology any structural anomaly of the curved bone forming part of the vault of the cranium
perinatal lethality, incomplete penetrance 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)
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
short mandible reduced length of the lower bony framework of the mouth where the inferior teeth are held
short maxilla reduced length of the upper jaw bone
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 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)
meroanencephaly type of anencephaly in which the brain and cranium are present in rudimentary form
acrania
short zygomatic bone reduced length of the bone that forms the prominence of the cheek
small frontal bone reduced size of the bone forming the forehead and roof of the eye orbit
absent interparietal bone absence of the bone of the cranium that lies above and anterior to the occipital bone in some mammals
small parietal bone reduced size of the curved bone forming part of the vault of the cranium
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
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
decreased cranium length having an decreased dorsal-to-ventral distance of the cranium
small temporal bone squamous part reduced size of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault
abnormal nasal cartilage morphology any structural abnormality of any of the cartilaginous elements formed from hyaline cartilage that provide form and support to the nose
pale liver liver lacking normal coloration, often refers to bloodless condition
small liver reduced size of the liver
pale yolk sac bloodless yolk sac
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
impaired hematopoiesis atypical process of blood cell formation with the result of fewer of these cells being formed
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 embryonic tissue morphology any structural anomaly or development of any embryonic tissue resulting in morphological abnormality
decreased cell proliferation reduction in the expansion rate of a cell population by cell division
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
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
embryonic lethality, complete penetrance death of all organisms of a given genotype in a population within the embryonic period prior to the completion of organogenesis (Mus: prior to E14)
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
increased embryonic tissue cell apoptosis increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death
abnormal definitive hematopoiesis abnormal development of blood cells in the fetal and adult organism; in the fetus cells develop in the aorta, genital ridge and mesonephros region and later in the liver; in adults cells normally develop in the bone marrow and lymphatic tissues
absent organized vascular network formation of vasculature, but failure to differentiate into stereotypic organized pattern
absent visceral yolk sac blood islands absence of the masses of developing blood cells attached to endothelium in the yolk sac
absent vitelline blood vessels absence of the vascular network that supplies the yolk sac
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.
embryo tissue necrosis morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage
no abnormal phenotype detected normal, viable and fertile appearance and behavior; reported phenotype is indistinguishable from controls
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
internal hemorrhage The presence of hemorrhage within the body.
hemopericardium A pericardial effusion that results from blood in the pericardial sac.
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 erythrocyte cell number reduced number of the cells that transport oxygen, red blood cells, per unit
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
irregular coat pigmentation uneven coloration of the hair
small testis reduced size of the male reproductive glands
absent coat pigmentation fur or hair is devoid of coloration and appears white
macrocytic anemia
abnormal ovarian follicle number abnormal numbers of spheroid cell aggregations in the ovary
premature death death after weaning age, but before the normal life span (Mus: after 3 weeks of age)
increased cell proliferation increase in the expansion rate of a cell population by cell division
increased tumor incidence greater than the expected number of neoplasms in a specific population in a given time period, usually of a specific type
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
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
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 cell physiology any functional anomaly of the vital processes of the cell
abnormal response to cardiac 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
decreased apoptosis less than normal cell death
decreased cellular sensitivity to gamma-irradiation decreased incidence of cell death following exposure to gamma-irradiation
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 thymus physiology any functional anomaly of the primary lymphoid organ that is required for immune system development
increased osteosarcoma incidence
increased cellular glucose import increased ability of a cell to take in glucose from the environment
abnormal chromosome number chromosome count is other than the expected diploid chromosome number
decreased cellular sensitivity to ionizing radiation decreased incidence of cell death following exposure to ionizing radiation
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
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
decreased thymocyte apoptosis reduction in the number of immature T cells located in the thymus that are undergoing programmed cell death
decreased susceptibility to induced morbidity/mortality increase in the amount of an external agent required to cause death or diseased state
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 tumor-free survival time decrease in the length of time an organism or population of organisms spends free from the signs, symptoms, or occurrence of neoplasms
intracranial hemorrhage Hemorrhage occurring within the skull.
spinal hemorrhage bleeding into the spine
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 blood circulation failure or atypical movement in the flow of blood from the heart to the vasculature and back to the heart
abnormal heart development aberrant formation or incomplete differentiation of the heart
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
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
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 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 cell migration any anomaly in the movement of cells from one site to another, often occurring during developmental or chemotactic processes
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
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
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
thick myocardium increased thickness of the heart muscle layer
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 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)
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 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
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 ovary morphology any structural anomaly of the female reproductive gland containing the germ cells
abnormal oogenesis atypical formation or failure to form the female germ cells
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
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
absent kidney
delayed kidney development late onset of the induction and/or differentiation of the kidney
decreased thymocyte number fewer than expected number of immature T cells located in the thymus
decreased oocyte number reduced numbers of germ cells in the female
kidney failure A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.
abnormal female germ cell morphology any structural anomaly female germ cells whether they are undifferentiated or fully differentiated
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
oocyte degeneration a retrogressive impairment of function or destruction of the female germ cells
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 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 suckling behavior reduced ability or inability to exert suction by the mouth, or atypical suckling pattern
abnormal craniofacial bone morphology any structural anomaly of the cranial or facial bones
abnormal skeleton development any anomaly in the formation of bone tissue
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
abnormal otic capsule morphology any structural anomaly of the cartilage or bony capsule surrounding the inner ear mechanism
abnormal malleus morphology any structural anomaly of the largest of the three auditory ossicles, which resembles a club or hammer
abnormal tympanic ring morphology any structural anomaly of the bony ring at the ear canal to which the tympanic membrane is attached
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 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 incus morphology any structural anomaly of the middle of the three auditory ossicles
abnormal stapes morphology any structural anomaly of the smallest and innermost of the three auditory ossicles
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
absent outer ear absence of the auricles or external acoustic meatus
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 temporal bone squamous part morphology any structural anomaly of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault
abnormal gonial bone morphology any structural anomaly of the investing bone that lies on the surface of the malleus
enlarged gonial bone increased size of the investing bone that lies on the surface of the malleus
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
cleft secondary palate
bifid tongue Tongue with a median apical indentation or fork.
absent hyoid bone lesser horns absence of shorter and more medial of the paired processes on either side of the hyoid bone
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
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
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 retrotympanic process morphology any structural anomaly of the posterior extension of the squamosal bone that lies just above the incus
absent stylohyoid muscle absence of the slender suprahyoid muscle lying anterior and superior of the posterior belly of the digastric muscle that elevates and retracts the hyoid bone, elongating the floor of the mouth during swallowing
abnormal tympanic cavity morphology any structural anomaly of the small, air-filled, mucosa-lined cavity that is located in the petrous portion of the temporal bone and houses the auditory ossicles and intratympanic muscles (tensor tympani and stapedius) as well as the chorda tympani and the tympanic plexus of nerves; it is split into two parts: the tympanic cavity proper (the space directly internal to the tympanic membrane) and the epitympanic recess or attic (the space superior to the tympanic membrane)
absent stapedius muscle missing the tiny muscle normally found in the pyramidal eminence on the posterior wall of the tympanic cavity, whose tendon inserts onto the neck of the stapes
abnormal tensor tympani muscle morphology any structural anomaly of the tiny striated muscle that originates superior to the pharyngotympanic tube, the sphenoid, and the temporal bone and inserts into the handle of the malleus; it tenses the tympanic membrane and dampens the movements of the auditory ossicles to prevent ear damage from loud sounds; it is innervated by the trigeminal nerve
abnormal temporal bone tympanic part morphology any structural anomaly of the curved plate of bone that is situated inferiorly to the squamous part and anteriorly to the mastoid part of the temporal bone; it surrounds the external auditory meatus, forming the anterior wall, floor and some of the posterior wall of the bony external acoustic meatus; its lateral border gives the attachment to the cartilaginous part of the external acoustic meatus; its anteroinferior surface forms the posterior boundary of the mandibular fossa
asymmetric rib joints loss of bilateral symmetry in rib attachments to the vertebral column or to the sternum
increased rib number greater than normal numbers of the pairs of bony structures that are elements of the body wall
cervical vertebral transformation homeotic transformation of any cervical vertebrae to adopt the fate of another vertebrae
abnormal sternum ossification anomaly in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone
sternebra fusion appearance of one or more sternebrae as a single structure
abnormal body weight anomaly in average weight compared to controls
postnatal lethality, incomplete penetrance 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)
neonatal lethality, incomplete penetrance 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)
incomplete somite formation arrest of differentiation or patterning of the somites
increased apoptosis greater than normal programmed cell death
absent pharyngeal arches missing the transient structures of the embryo that develop into regions of the head, neck and ears
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 myogenesis anomaly in embryonic formation of muscle cells or fibers
spina bifida
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
abnormal dermomyotome development any structural anomaly of the portion of the embryonic somite that remains after migration of the sclerotomic tissue
prenatal lethality, complete penetrance death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)
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
priapism A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain.
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
abnormal hepatocyte morphology any structural anomaly of the main structural specialized epithelial cells which normally organize into interconnected plates called lobules
dilated liver sinusoidal space the luminal space of one or more liver sinusoids is increased in volume or area
irregular heartbeat uneven timing of heart contraction
dissociated hepatocytes disorganization of cohesive hepatocyte structure
decreased fetal weight reduced weight of a fetus compared to controls (sensu Mus: from E14 through birth)
lethality throughout fetal growth and development, complete penetrance death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)
disorganized placental labyrinth derangement of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood
rib bifurcation forking or division of ribs, may be a result of partial rib fusions
short ribs Reduced rib length.
abnormal sternocostal joint morphology any anomaly in the normal joining of the ribs to the sternum
absent myotome absence of the mesoderm that is derived from the somite that is fated to become the musculature
abnormal cartilage morphology Any abnormality of cartilage.
abnormal tibia morphology any structural anomaly of the medial and larger of the two bones of the lower leg
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
micrognathia Developmental hypoplasia of the mandible.
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
short femur An abnormal shortening of the femur.
increased width of hypertrophic chondrocyte zone increased width of cartilage cell matrix layer
abnormal pelvic girdle bone morphology any structural anomaly of the bones of the pelvis by which the limbs attach to the axial skeleton
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
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 pubis reduced size of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis
absent patella absence of the large sesamoid bone that covers the anterior surface of the knee
absent gonial bone absence of the investing bone that normally lies on the surface of the malleus
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
bifurcated tongue tongue is split into two halves at the anterior tip; this is normal in some animals such as reptiles
absent sesamoid bone of gastrocnemius missing the small sesamoid bones situated behind the condyles of the femur
abnormal vertebrae morphology any structural anomaly of the bony segments of the spinal column
absent vertebral body absence of the main cylindrical portion of the vertebra ventral to the vertebral canal
absent intervertebral disk absence of the cartilaginous and gelatinous structure found between vertebrae
abnormal costovertebral joint morphology any anomaly in the normal joining of the ribs to the vertebral column, these connections are made by costovertebral ligaments between the head of the rib and the body of the thoracic vertebra
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
disorganized myocardium derangement of the pattern cardiac muscle layers
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
thin myocardium reduced thickness of the cardiac muscle layer
pericardial effusion A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity.
abnormal myocardium layer morphology any structural anomaly of the middle layer of the heart, comprised mainly of striated cardiac muscle fibers
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 epicardium morphology any structural anomaly of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart
thin myocardium compact layer reduced thickness of the outer, dense layer of the myocardium
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
hydropic allantois excessive accumulation of fluid within the allantoic sac
abnormal vasculogenesis aberrant process of the initial establishment of the vascular network
absent notochord missing axial fibrocellular cord in embryos around which develops the vertebral primordia
kinked neural tube twists or kinks in the embryonic neural tube
absent somites absence of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo
abnormal cardiac jelly morphology any structural anomaly of the gelatinous noncellular material between the endothelial lining and the myocardial layer of the developing heart
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
short rostral-caudal axis length reduction or truncation of the axis that runs from the head to the tail of the body
abnormal cell death any anomaly in the cessation of function at the cellular level
incomplete embryo turning arrest of the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage
distended pericardium an expansion in the volume of the sac-like structure contained by the outer parietal layer of the pericardium
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 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 visceral yolk sac blood island morphology any structural anomaly of the masses of developing blood cells attached to endothelium in the yolk sac
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 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
abnormal germ layer development abnormal development of the three primary germ layers of the embryo
absent amniotic folds failure of the amnion to form involutions
absent allantois missing fetal membrane which contributes to the formation of the umbilical cord and placenta
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
shortened head
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)
abnormal placenta vasculature any structural anomaly of the vessels of the placenta
delayed embryo turning completion of axial rotation occurs later than in controls but is eventually completed
placenta hemorrhage presence of bleeding in the placenta
abnormal digit morphology any structural anomaly of the fingers or toes
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
brachypodia abnormally short feet
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 phalanx morphology any structural anomaly of any of the long bones of the digits
abnormal patella morphology any structural anomaly of the large sesamoid bone that covers the anterior surface of the knee
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
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 digit development anomaly in the formation of the digits
short metacarpal bones reduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges
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
decreased length of long bones reduced end-to-end length of the several elongated bones of the extremities
fused phalanges anomaly of the long bones of the digits resulting in some or all the bones being joined together
fused carpal bones anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands resulting in some or all the bones being joined together
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 axial skeleton morphology An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.
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 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
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
absent tibia Absence of the tibia.
abnormal retina 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
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
abnormal hindlimb zeugopod morphology any structural anomaly of the distal elements of the hindlimb including the tibia and fibula
abnormal limb development anomaly in the formation of the limbs
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 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
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
abnormal neural tube ventricular layer morphology any structural anomaly of the layer of undifferentiated, proliferating cells that line the neural tube lumen
abnormal embryo development anomaly in the establishment of the characteristic configuration of the embryonic body
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
small heart reduced size of the heart relative to average
abnormal hindbrain development anomaly in the formation or pattering of the caudal region of the brain
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
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
absent optic vesicle absence of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop
kyphosis Exaggerated anterior convexity of the thoracic vertebral column.
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
sirenomelia A developmental defect in which the legs are fused together.
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
embryonic lethality during organogenesis, incomplete penetrance 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)
belly spot the appearance of a round area of white fur on the belly
diluted coat color a coat color that appears lighter in intensity or paler than normal
atelectasis Collapse of part of a lung associated with absence of inflation (air) of that part.
rib fusion Complete or partial merging of adjacent ribs.
abnormal vertebral body morphology any structural anomaly of the main cylindrical portion of the vertebra ventral to the vertebral canal
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 sphenoid bone morphology any structural anomaly of the irregularly shaped bone of the base of the skull
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
spina bifida occulta The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
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
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
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
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
interrupted aortic arch Non-continuity of the arch of aorta with an atretic point or absent segment.
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
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
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
small vertebral body decreased size of the main cylindrical portion of the vertebra ventral to the vertebral canal
short vertebral body reduced length of the main cylindrical portion of the vertebra ventral to the vertebral canal
abnormal fourth pharyngeal arch artery morphology any structural anomaly of the vessels formed within the fourth pair of branchial arches in embryogenesis
abnormal third pharyngeal arch artery morphology any structural anomaly of the vessels formed within the third pair of branchial arches in embryogenesis
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.
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
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
ventricular septal defect A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
aortic arch coarctation a congenital focal constriction of the aortic arch
absent soft palate absence of the musculomembranous fold that partly separates the mouth and pharynx, located behind the hard palate in the adult
ectopic Purkinje cell Purkinje cell body resides in places other than the Purkinje cell layer in the cerebellum
abnormal cerebellum morphology
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
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
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
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
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
abnormal epidermal layer morphology any structural anomaly of the superficial epithelial portion of the skin
short tail reduced length of tail compared to control
abnormal placenta development malformed or incomplete differentiation of the organ of metabolic exchange between the fetus and mother
abnormal limb bud morphology any structural anomaly of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs
abnormal nervous system development impaired or altered growth of the components of the nervous system
caudal body truncation caudal part of body truncated; typically with the rostral portion of the body relatively normal
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)
bleb A cell extension characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusions.
abnormal head shape any anomaly in the characteristic surface outline or contour of a head of an organism
delayed heart development late onset of the induction and/or differentiation of the heart
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
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)
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)
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
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 posterior primitive streak morphology any structural anomaly of the posterior region of the vertebrate primitive streak which gives rise to the extraembryonic mesoderm
thin tail a tail with a smaller diameter than normal
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 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
decreased rib number fewer than normal numbers of the pairs of bony structures that make up the body wall
fusion of vertebral arches improper union of the dorsal part of adjacent vertebra
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
increased erythroid progenitor cell number greater numbers of progenitors of the erythrocyte lineage
increased hepatocyte apoptosis increase in the number of hepatocytes undergoing programmed cell death
abnormal melanoblast morphology any structural anomaly of a cell that originates from the neural crest and differentiates into a pigment cell
abnormal eye pigmentation change in the normal pigmentation of the eye to another color, or lack of color
decreased body size smaller than average body weight, height and/or length of an organism compared to controls
abnormal larynx morphology any structural anomaly of the organ of voice production located between the pharynx and the trachea
abnormal middle ear morphology any structural anomaly of any components of the tympanic cavity or its ossicles
abnormal rib morphology any structural anomaly of the bones forming the bony wall of the chest
short premaxilla reduced length of the anterior and interior portion of the maxilla
abnormal nasal mucosa morphology any structural anomaly of the mucous membrane that lines the nasal cavity
abnormal cochlea morphology any structural anomaly of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound
absent endolymphatic duct missing small membranous canal of the inner ear; connecting membranous labyrinth with the endolymphatic sac
abnormal neurocranium morphology any structural anomaly of the bones of the skull enclosing the brain
abnormal nasal bone morphology any structural anomaly of either of two rectangular bone plates forming the bridge of the nose
small trigeminal ganglion reduced size of the trigeminal ganglion
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
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 occipital bone morphology any structural anomaly of the bone at the lower, posterior part of the skull
abnormal tooth mineralization abnormalities in the process by which calcium salts are deposited into the dental enamel, dentin and cementum
abnormal premaxilla morphology any structural anomaly of the anterior and inner portion of the maxilla
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 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
decreased lateral semicircular canal size small size of the lateral long bony tube of the labyrinth that is involved in the sense of balance
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
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
abnormal external auditory canal morphology any structural anomaly of the canal that connects the outer and middle ear
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
abnormal molar crown morphology any structural anomaly of the part of a molar that is covered by enamel
abnormal tongue muscle morphology any structural anomaly of the muscular portion of the tongue
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
small interparietal bone reduced size of the bone of the cranium that lies above and anterior to the occipital bone in some mammals
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
small nasal bone reduced size of either of two rectangular bone plates forming the bridge of the nose
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
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
small maxilla reduced size of the upper bony framework of the mouth where the superior teeth are held
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 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
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
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
cleft primary palate
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
absent vomeronasal organ lacking 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
short Meckel's cartilage length reduction or truncation of the cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible and gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments
ectopic cranial bone the appearance of an extra bone structure at an atypical location in or near the cranium
decreased bone mineralization decrease in the rate at which minerals are deposited into bone
small lacrimal bone reduced size of the thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla
short lower incisors reduced length of the lower set of long teeth that are the most anterior and prominent in the jaw
short upper incisors reduced length of the upper set of long teeth that are the most anterior and prominent in the jaw
abnormal mylohyoid muscle morphology any structural anomaly of the flat and triangular paired muscle that runs from the mandible to the hyoid bone forming the muscular floor of the oral cavity of the mouth; it is a suprahyoid muscle derived from the first pharyngeal arch that is situated immediately superior to the anterior belly of the digastric muscle
deviated nasal septum Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.
short nasal septum Reduced superior to inferior length of the nasal septum.
frontonasal prominence hypoplasia decrease in the number of normal cells in normal arrangement in the frontonasal prominence, typically resulting in decreased size
abnormal tegmen tympani morphology any structural anomaly of the thin plate of bone which separates the middle ear (tympanic) cavity from the dura of the middle cranial fossa and forms the roof of the middle ear cavity; it is formed in part by the petrous portion of the temporal bone, and the squamous portion of the temporal bone
abnormal outer ear cartilage morphology any structural anomaly of the elastic cartilage components of the auricles and/or external acoustic meatus
abnormal superior horn of thyroid cartilage morphology any structural anomaly of either of a pair of upward projections from the posterior border of the thyroid cartilage; it is long and narrow, directed upward, backward, and medialward, and ends in a conical extremity, which gives attachment to the lateral hyothyroid ligament
abnormal sexual interaction altered initiation, failure of initiation or incomplete mating behavior
hyperactivity
abnormal inner ear morphology any structural anomaly of any components of the labyrinth, including the semicircular canals, vestibule and cochlea
circling repeated movement in a circle; often associated with inner ear defects
reduced female fertility reduced ability of female to produce live offspring
reduced male fertility reduced ability of male to produce live offspring
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
head tossing repetitive flailing of the head in multiple directions
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 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
inner ear cyst presence of one or more abnormal membranous sacs in any component of the labyrinth, including the semicircular canals, vestibule and cochlea
abnormal otic capsule development any anomaly in the embryonic cartilage covering that surrounds the inner ear mechanism and develops into bone
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
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
abnormal cell proliferation anomaly in the ability of the a cell population to undergo expansion by cell division
decreased hepatocyte number fewer than normal number of parenchymal liver cells
decreased brain size
small dorsal root ganglion reduced size a group of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column
decreased fetal size smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)
enlarged fourth ventricle increased size 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
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
abnormal heart position or orientation the heart is displaced from the normal left-sided position and/or orientation
abnormal eye muscle morphology any structural anomaly of the muscles of the eye
cataract Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)
microphthalmia
abnormal pupil morphology any structural anomaly of the central circular aperture of the iris through which light rays enter the eye
malocclusion
abnormal placement of pupils
anisocoria Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.
misaligned incisors abnormal alignment of the upper and lower incisor teeth, usually resulting in malocclusion; in gnawing rodents, where incisors are rootless and grow continually, signs of incisor malocclusion include uneven wear patterns, sloping of the cutting edges, fractured teeth, altered pigmentation, and obvious pathological overgrowth of the incisors
enlarged heart
abnormal atrioventricular valve morphology any structural anomaly of the valves that gate the flow of blood from the atria into the ventricles
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
abnormal vena cava morphology any structural anomaly of either of the two largest veins in the body
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
abnormal eye muscle development malformation or arrest of differentiation of the muscles of the eye
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
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 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
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
abnormal Rathke's pouch apoptosis any change in the timing or number of Rathke's pouch cells undergoing programmed cell death
increased corneal epithelium thickness increase in the width or number of cell layers of the smooth stratified squamous epithelium that covers the outer surface of the cornea
absent palatine bone horizontal plate missing bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate
abnormal multipotent stem cell morphology any structural anomaly of the specialized cells that are committed to giving rise to cells with particular functions
small kidney reduced physical bulk one or both of the organs responsible for urine secretion
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
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
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
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
small mandible reduced size of the lower bony framework of the mouth where the inferior teeth are held
small Meckel's cartilage reduced size of the cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible and gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments
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
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 rib development anomalous formation of the bones forming the bony wall of the chest
abnormal digestive system development abnormal formation of the organ system that converts ingested food to nutrients and energy
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
enophthalmos
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
splayed ribs any deviation from the normal curvature of the ribs such that the ribs are turned outward
enlarged heart left atrium increased size of the left upper chamber of the heart
common atrium Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.
heart right ventricle hypoplasia underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells
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
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
absent extraocular muscles missing the striated muscles that are located within the orbit but are extrinsic and separate from the eyeball itself and control the movements of the eyeball and the superior eyelid
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
absent myocardial trabeculae absence of the supporting bundles of muscular fibers lining the walls of the heart
absent atrioventricular cushions absence of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal
abnormal pharyngeal arch morphology any structural anomaly of the transient structures of the embryo that develop into regions of the head, neck and ears
failure of heart looping failure of the primitive heart tube to loop asymmetrically during early development
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 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
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
decreased somite size reduced size of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo
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
small frontonasal prominence reduced size of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout
absent heartbeat lack of a spontaneously beating heart (usually due to defects in the calcium delivery mechanism or loss of a functional contractile apparatus)
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 cervical atlas morphology any structural anomaly of the first (topmost, C1) cervical vertebra which supports the globe of the head
asymmetric sternocostal joints loss of bilateral symmetry in rib attachments to the sternum
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
absent odontoid process absence of the large protuberance that projects upward from the cervical axis, around which the cervical atlas rotates
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
delayed somite formation late onset of the induction and/or differentiation of the somites
hydroureter The distention of the ureter with urine.
bifid ureter Incomplete duplication of the ureter.
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
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
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
ectopic ureteric bud ureteric bud(s) are not located in the normal or expected position
ectopic testis one or both of the testes located outside the normal pathway of descent into the scrotum
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
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
blind ureter a ureter ending in a blind-ended segment or pouch
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
wavy neural tube undulations in the embryonic neural tube
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)
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
absent embryonic cilia absence of cilia on the cells of the embryonic node
abnormal direction of heart looping deviation from the characteristic rightward direction of looping of the primitive heart tube; frequently seen in heterotaxy syndromes
broad limb buds increased anterior-posterior width of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs
abnormal lens morphology any structural anomaly of the transparent structure of the eye responsible for focusing light rays
abnormal optic nerve morphology
abnormal retina morphology any structural anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors
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)
abnormal retina pigment epithelium morphology any structural anomaly in the epithelial layer of the retina composed of cells containing pigment granules
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
abnormal corneal epithelium morphology any structural anomaly of the smooth stratified squamous epithelium that covers the outer surface of the cornea
abnormal lens epithelium morphology any structural anomaly in the one or more of the layers of epithelial cells in the lens
abnormal retina photoreceptor layer morphology any structural anomaly of the photoreceptor layer
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 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 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
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
embryonic lethality between implantation and somite formation, complete penetrance 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)
abnormal apoptosis excessive or absent cell death in a particular tissue or cell type
abnormal heart tube morphology any structural anomaly of the primitive epithelial cardiac tube before the division into the chambers of the mature heart
abnormal myocardial fiber morphology any structural anomaly of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart
failure of primitive streak formation inability to form the epiblast ridge from which arises the germ layers of the embryo
mydriasis Abnormal dilatation of the iris.
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
impaired pupillary reflex
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
abnormal caput epididymis morphology any structural anomaly of the head of the epididymis
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
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
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
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 olfactory nerve morphology any structural anomaly of the first cranial nerve, which conveys the sense of smell
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
abnormal submandibular gland morphology any structural anomaly of either of the large major salivary glands situated beneath the mandible
abnormal olfactory epithelium morphology any structural anomaly of the epithelial cells that line the interior of the nose
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
small allantois reduced size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels
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
abnormal hindgut morphology any structural anomaly of the caudal portion of the primitive digestive tube of the embryo
absent midgut absence of the portion of the embryonic gut between the foregut and the hindgut
poor circulation insufficient movement of blood throughout the body, often manifesting in cold and/or pale skin
abnormal geniculate ganglion morphology any structural anomaly of the group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve)
abnormal petrosal ganglion morphology any structural anomaly of the larger, lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve
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 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 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
small superior vagus ganglion reduced size of the upper ganglion of the vagus nerve located at the jugular foramen
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)
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 heart morphology Any structural anomaly of a heart.
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
abnormal stomach epithelium morphology any structural anomaly of the epithelial layer of the stomach
abnormal myocardial trabeculae morphology any structural anomaly of the supporting bundles of muscular fibers lining the walls of the heart
abnormal cranial ganglia morphology any structural anomaly of the groups of nerve cell bodies associated with the twelve cranial nerves
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
abnormal pancreas morphology
thin atrioventricular cushion reduced thickness of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal
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
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 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 enteric ganglia morphology any structural anomaly or deformity of the groups of nerve cell bodies associated with the enteric neurons
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
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
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)
small petrosal ganglion reduced size of the lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve
decreased Schwann cell number fewer than normal number of cells that sheath the axons of the peripheral nervous system
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 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
cerebellum hypoplasia
absent cerebellum vermis missing narrow middle zone between the two hemispheres of the cerebellum
abnormal cerebral aqueduct morphology any structural anomaly of the channel in the mesencephalon that connects the third and fourth ventricles
abnormal neuronal migration any anomaly in the movement of immature neurons from germinal zones to specific positions where they will reside as they mature
atrioventricular valve regurgitation the backward reflux of blood through the atrioventricular valve, due to insufficiency caused by disease, aging or congenital malformation
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
abnormal cranial flexure morphology any structural anomaly or absence of the sharp, ventrally concave bend in the developing midbrain of the embryo
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 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
absent trabeculae carneae missing supporting bundles of muscular fibers lining the walls of the ventricles of the heart
absent mandibular nerve missing third division of the trigeminal nerve
barrel chest
decreased body height decreased shoulder to floor distance compared to controls
axial skeleton hypoplasia underdevelopment or reduced size in the skeletal elements of the trunk, usually due to reduced cell number
absent spleen
abnormal vertebral body development anomalous formation of the main portion of the vertebra anterior to the vertebral canal, and distinct from the vertebral arch
abnormal intervertebral disk morphology any structural anomaly of the cartilaginous and gelatinous structure found between vertebrae
small vertebrae reduced size of the bony segments of the spinal column
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 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
short snout
postnatal growth retardation Slow or limited growth after birth.
ocular hypertelorism increased interpupillary distance, i.e. increased distance between the center of the pupils of the two eyes
abnormal Schwann cell morphology any structural anomaly of the cells which form the insulating myelin sheaths of peripheral axons
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
decreased total body fat amount less than the normal total amount of connective tissue composed of fat cells within the entire body
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 mouth floor morphology any structural morphology of the ventral area of the mouth; in organisms with a tongue, a small horseshoe-shaped region situated beneath the movable part of the tongue and above the muscular diaphragm formed by the mylohyoid muscles; a median fold of mucous membrane, the lingual frenulum, connects the inferior surface of the tongue to the floor of the mouth
lower jaw to upper jaw transformation homeotic transformation of lower jaw (mandibular) elements into upper jaw-like (maxillary) structures
abnormal pharynx morphology any structural anomaly in the passage between the mouth and the posterior nares and the larynx and esophagus
abnormal bronchus morphology any structural anomaly of the upper conducting airways of the lung; these airways arise from the terminus of the trachea
small stomach reduced size of the stomach
tracheoesophageal fistula An abnormal connection (fistula) between the esophagus and the trachea.
absent tracheal cartilage rings absence of the 16-20 incomplete rings of hyaline cartilage forming the skeleton of the trachea
abnormal branching involved in lung morphogenesis anomaly in the process in which the branched structure of the respiratory airway tree is generated and organized
abnormal digestive system physiology any functional anomaly of the organ system that converts ingested food to nutrients and energy
abnormal testis morphology any structural anomaly of the male reproductive glands
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 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
testis hypoplasia
abnormal cecum morphology any structural anomaly of the large sac at the ileum and large intestine junction
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.
ovotestis A hermaphrodite gonad (as in some scale insects).
primary sex reversal gonad type is not consistent with chromosomal sex
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
abnormal Sertoli cell development anomalous differentiation of cells that support germ cell differentiation in males
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
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
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 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
disorganized testis cords derangement of the pattern of the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence
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 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
abnormal Leydig cell differentiation atypical formation of or inability to produce the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone; in most mammals, normal Leydig cell (LC) development comprises two sequential but overlapping cell lineages known as the fetal and adult type LC populations, which display distinct functional characteristics reflected by different morphology, hormonal regulation, and steroidogenic output
abnormal eye morphology A structural anomaly of the eye.
abnormal postnatal growth/weight/body size increased or decreased average body size, weight or growth characteristic abnormalities manifesting after birth
arrest of tooth development failure of differentiation of the teeth
abnormal interatrial septum morphology any structural anomaly of the thin membranous structure between the two heart atria
spleen hypoplasia
irregularly shaped pupil shape defects in the aperture of the iris through which light rays enter the eye, usually circular
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
dextrocardia
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.
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.
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
absent corneal endothelium absence of the single layer of large flattened cells that cover the surface of the cornea
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
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
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
absent eye 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
lethality throughout fetal growth and development, incomplete penetrance 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)
double outlet right ventricle with atrioventricular septal defect a form of DORV in which there is also a complete atrioventricular canal
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.
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 hair growth absence or reduced amount of hair or abnormal onset of hair growth cycle or development, or abnormal hair pattern
decreased body weight
tremors repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement
abnormal gait abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground
delayed eyelid opening late average time for the first postnatal eye opening
blepharoptosis
abnormal sensory neuron innervation pattern any changes in the placement, morphology or number of sensory nerve fibers to sensory termini or to spinal cord
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
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
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
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)
dorsal root ganglion hypoplasia underdevelopment or reduced size, usually due to a reduced cell number, of a dorsal root ganglion or ganglia
abnormal craniofacial morphology any structural anomaly of the face or head affecting appearance
abnormal snout morphology any structural anomaly of the anterior facial part of the face or muzzle containing the oral and nasal regions
abnormal eyelid morphology any structural anomaly of the skin folds covering the front of the eyeball
absent mandible missing the lower bony framework of the mouth where the inferior teeth are held
abnormal eye distance/ position abnormal placement of the eyes in relation to each other or in relation to other craniofacial structures
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
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
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
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
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
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
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
aniridia OMIM mapping confirmed by DO. [SN].
small cranium reduced size of the cranium
retina pigment epithelium hyperplasia increase in the number of normal cells in normal arrangement in the retinal pigment epithelium, typically resulting in increased size
aphakia absence of the crystalline lens of the eye
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
abnormal retina layer morphology any structural anomaly of any of the layers that make up the retina
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
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
absent nasal septum absence of the structure that separates the two nasal cavities
absent mandibular coronoid process absence of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion)
absent nasal capsule absence of the cartilage around the developing nasal cavity of the embryo
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
acephaly congenital absence of the head
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
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
absent cornea absence of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure
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
ethmocephaly the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain; ethmocephaly presents with a proboscis situated above hypoteloric orbits in the midline, microphthalmos, absent nasal structures (arrhinia) and lowset malformed ears
absent orbitosphenoid bone missing 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
absent nasopharynx failure to form the section of the pharynx that lies above the soft palate
situs inversus OMIM mapping confirmed by DO. [LS].
heterotaxia abnormal arrangement of organs or parts of the body in relation to each other according to the left-right axis
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
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
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
abnormal reflex anomaly in an involuntary response to a peripheral stimulus
abnormal humerus morphology any structural anomaly of the bone of the forelimb that articulates with the scapula above and the radius and ulna below
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
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.
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
sacral vertebral transformation homeotic transformation of any sacral vertebrae to adopt the fate of another vertebrae
thoracic vertebral transformation homeotic transformation of any thoracic vertebrae to adopt the fate of another vertebrae
split xiphoid process
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 eating behavior Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption.
weakness state of being infirm or less strong than normal
small lens reduced size of the transparent structure of the eye responsible for focusing light rays
abnormal corneal endothelium morphology any structural anomaly of the single layer of large flattened cells that cover the surface of the cornea
increased cornea thickness increased width of the cornea in the center plane
blood vessel congestion obstruction of the normal flux of blood within the blood vessel network
abnormal motor neuron morphology Any structural anomal that affects the motor neuron.
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 glossopharyngeal ganglion morphology any structural anomaly of the two groups of sensory neuron cell bodies associated with the ninth cranial nerve
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)
abnormal vagus ganglion morphology any structural anomaly of the group of sensory neuron cell bodies associated with the vagus nerve
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
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
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
abnormal autonomic nervous system morphology A structural abnormality of the autonomic nervous system.
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 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
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
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
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
microcephaly OMIM mapping confirmed by DO. [SN].
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
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
decreased body length decreased measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction
anencephaly
abnormal inner ear vestibule morphology any structural anomaly of the cavity between the semicircular canals and the cochlea of the inner ear
disorganized retina layers derangement of the pattern of the sheets of cells comprising the optic part of the retina
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
abnormal exocrine pancreas morphology any structural anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes
abnormal bile duct development incomplete or aberrant differentiation of the channels that secrete bile from the liver to the gall bladder and intestines
abnormal vestibular saccule morphology any structural anomaly of the smaller of the two sacs in the vestibule
abnormal utricle morphology any structural anomaly of the larger of the two sacs in the vestibule
absent gallbladder A developmental defect in which the gallbladder fails to form.
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 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
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
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
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
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
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
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
decreased club cell number reduced number of the rounded, club-shaped, nonciliated cells found between ciliated cells in bronchiolar epithelium
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
abnormal neuron morphology A structural anomaly of a neuron.
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
abnormal retina photoreceptor morphology any structural anomaly of a cell specialized to detect and transduce light, including rods and cones of the retina
abnormal eye physiology A functional anomaly of the eye.
abnormal retina outer nuclear layer morphology any structural anomaly of the retinal layer that contains the nuclei and cell bodies of rods and cones
abnormal photoreceptor outer segment morphology any structural anomaly of the photoreceptor region that is rich in the visual pigment rhodopsin
abnormal cone electrophysiology any functional anomaly of light adapted vision mediated by the cones
abnormal rod electrophysiology any functional anomaly of dark adapted vision mediated by the rods
abnormal small intestine placement different location or arrangement of the small intestinal tract
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
absent pancreas absence of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream
liver cyst
kidney cyst presence of one or more abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion
abnormal radius morphology any structural anomaly of the short bone of the lateral forearm
abnormal ulna morphology any structural anomaly of the medial and larger of the two bones of the forearm
abnormal spine curvature deviation from the typical S-shape of the spine
atrial septal defect
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
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
decreased neuronal precursor cell number reduced number of the neuroblast embryonic cells that develop into nerve cells or neurons
increased neuron number greater than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses
lordosis
decreased caudal vertebrae number reduced number of the bony segments of the tail or tail remnant
fused dorsal root ganglion loss of DRG spacing pattern and the appearance of two or more ganglia as one
abnormal somite size atypical size of any of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo
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
vertebral fusion A developmental defect leading to the union of two adjacent vertebrae.
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
abnormal brain ependyma morphology any structural anomaly of the cellular membrane that lines the brain ventricles
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 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
abnormal multifidus muscle morphology any structural anomaly in the small, triangular muscular and tendinous bundles located on either side of the spinal column that fill the groove between the transverse and spinous processes of the vertebrae
abnormal gland morphology any structural anomaly of an organ that functions as a secretory or excretory organ
abnormal gland physiology any functional anomaly of an organ that functions as a secretory or excretory organ
infertility Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility.
abnormal hypothalamus secretion altered ability of the hypothalamus to produce or release biologically active substances
abnormal pituitary secretion anomaly in the production and/or release of biologically active substances from pituitary tissue
decreased leukocyte cell number
decreased neutrophil cell number
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
small pituitary gland An abnormally decreased size of the pituitary gland.
abnormal thermosensation defect in the ability to sense or display a preference for a given temperature
abnormal long bone epiphyseal ossification zone morphology any structural anomaly of the layer of the epiphyseal plate where new bone matrix is deposited
small adenohypophysis reduced size of the anterior part of the pituitary that secretes a variety of hormones
decreased somatotroph cell number reduced number of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin
decreased lactotroph cell number reduced number of an acidophilic cell of the anterior pituitary that produces prolactin
lethality at weaning, incomplete penetrance 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
decreased testes secretion reduction in the production and/or release of hormones from testicular tissue
decreased ovary secretion reduction in the production and/or release of hormones from ovarian tissue
absent semicircular canals missing organ of balance; consists of three bony tubes within which the semicircular ducts are located
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
abnormal inner ear canal fusion any structural anomaly or mistiming of the fusion of the canal primordia during development
abnormal ear development developmental anomaly of any of the structures involved in the ear or vestibular system
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
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
abnormal salivary gland morphology any structural anomaly of the saliva-secreting glands of the oral cavity
domed cranium increased curvature to the hemispherical shape of the upper cranial case
absent mammary gland absence of the specialized accessory gland of the skin of mammals that secretes milk
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
thin dermal layer reduced thickness of the dermis
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
thin epidermis reduced thickness of the superficial epithelial portion of the skin
thin skin Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
translucent skin skin that is more transparent to light than normal
absent eyelids missing skin folds covering the front of the eyeball when closed
abnormal semicircular canal morphology any structural anomaly of the organ of balance composed of three long bony tubes of the labyrinth
abnormal rectum morphology any structural anomaly of the terminal portion of the intestinal tube adjacent to the anus
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
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 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
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
curly tail a loop or corkscrew-like curl in the tail
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
abnormal perineum morphology any structural anomaly of the area between the genital organs and the anus that lies beneath the pelvic diaphragm
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 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
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
small scapula reduced size of either or both of the large, flat bones of the back part of the shoulder
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
small otic capsule reduced size of the cartilage or bony capsule surrounding the inner ear mechanism
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
caudal vertebral fusion the union of one or more caudal vertebrae into a single structure in species where this does not normally occur
absent pubis absence of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis
absent adenohypophysis absence of the anterior part of the pituitary that secretes a variety of hormones
abnormal cecum development malformation or aberrant differentiation of the large sac at the ileum and large intestine junction
absent rectum absence or loss of the terminal portion of the intestinal tube adjacent to the anus
cecal atresia congenital blockage or absence of the lumen of the cecum
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
absent hypodermis muscle layer absence of the skeletal muscle layer in the superficial fascia
decreased skin pigmentation visually detectable dilution of pigment present in the skin
abnormal mammary placode morphology any structural anomaly of the transient lens-shaped thickening of surface ectoderm that will give rise to the mammary bud proper; in mouse, five pairs of symmetrically positioned mammary placodes (three thoracic and two inguinal) form at reproducible locations along the mammary line at E11.5; the individual pairs develop asynchronously and in a distinct order; pair 3 is first, followed by pair 4, then by pairs 1 and 5 (which develop together), and finally by pair 2; the orientation of placodal cells is not uniform, suggesting that placodes are formed by migration of cells from the mammary line; between E11.5 and E12.5, each mammary placode expands and invaginates into the underlying mesenchyme to form an early bulb-shaped mammary bud
abnormal mammary gland bud morphology any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is elevated above the surrounding ectoderm as a knob or dome; at E13.5, the buds sink into the underlying dermal mesenchyme, and by E14.5 they can no longer be detected externally; in female mouse embryos, five pairs of anlagen or buds are formed along the mammary line between E12.5 and E14.5 by proliferation of basal epidermal cells; while further mammary development is temporarily arrested in females, androgen receptor activation in male embryos causes degeneration of the buds between E13.5 and E15.5; in female mice, further development is resumed at around E15.5 when each bud elongates to form a mammary cord (sprout), invading the underlying fat pad precursor
premature squamoparietal suture closure early closure of the squamoparietal suture of the skull
perineal hypospadia a form of male hypospadia where the scrotum is abnormally divided (bifid) and the male urethral opening is located in the perineal region along the center of the divided sac
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
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
abnormal coat/hair pigmentation irregular or unusual pigmentation of the hair
reduced fertility diminished ability to produce live offspring
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
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
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
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)
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
enlarged otoliths increased average size of the crystalline calciferous particles adhering to the otolithic membrane
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
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
abnormal stria vascularis vasculature morphology any structural anomaly of the blood vessels supplying the stria vascularis in the cochlea of the inner ear
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 kidney morphology
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
adactyly The absence of all phalanges of all the digits of a limb and the associated soft tissues.
absent vertebrae
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
decreased spinal cord size smaller appearance of the spinal cord
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
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
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.
absent fibula absence of the lateral and shorter of the two bones of the lower leg
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 spinal cord interneuron morphology any structural anomaly of neurons that exclusively interact with other neurons in the spinal cord
fetal growth retardation slow or limited development during the fetal period (sensu Mus: from E14 through birth)
abnormal optic stalk morphology any structural anomaly of the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain
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
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
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
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
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 hemangiosarcoma incidence
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
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
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
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 ventral interneuron 3 morphology any structural anomaly of the ventral interneurons that are glutamatergic, predominantly project contralaterally and caudally, form connections with V1, V2 and lamina VIII interneurons, and are characterized by expression of Nkx2-2, Nkx601, Ngn3, and Sim1
abnormal primitive streak morphology anomaly in the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm
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.
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
truncated notochord notochord morphology that terminates abruptly as if having an end or point cut off
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 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 stomach position or orientation the stomach is displaced from the normal left-sided position and/or orientation
embryonic lethality, incomplete penetrance 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 the completion of organogenesis (Mus: prior to E14)
absent heart tube absence of the primitive epithelial cardiac tube before the division into the chambers of the mature heart
truncated foregut shortened foregut that terminates abruptly as if having an end or point cut off
abnormal head development anomaly in the process in which the anatomical structures of the head are generated and organized
abnormal immune system physiology deviation from the normal function of the immune system
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
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
increased cellular sensitivity to gamma-irradiation increased incidence of cell death following exposure to gamma-irradiation
embryonic lethality between implantation and placentation, complete penetrance 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)
absent trophoblast giant cells missing cells of the extraembryonic cell layer that contribute to the placenta
disorganized extraembryonic tissue a lack of the regular arrangement of the membranes involved with the embryo's protection and nutrition
abnormal embryonic-extraembryonic boundary morphology any structural anomaly in the delineating tissue and the segregation between the embryo proper and extraembryonic 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 parietal endoderm morphology any structural anomaly of the primitive endoderm-derived tissue that lines the luminal surface of the mural trophectoderm
absent egg cylinders inability of inner cell mass cells to grow towards the abembryonic pole to form a cylinder-like structure
abnormal scapula morphology any structural anomaly of either or both of the large, flat bones of the back part of the shoulder
abnormal myotome development malformation of or absence of the part of the somite that develops into the musculature
skin edema accumulation of an excessive amount of fluid in the skin layers or just underneath the skin
pericardial edema accumulation of watery fluid in the pericardial sac of the heart
failure of somite differentiation disorganized or absent somite tissue or somite pattern in development
abnormal frontal bone morphology any structural anomaly of the bone forming the forehead and roof of the eye orbit
midline facial cleft A congenital malformation with a cleft (gap or opening) in the midline of the face.
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
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 myotome morphology any structural anomaly of the mesoderm that is derived from the somite that is fated to become the musculature
absent zygomatic bone absence of the quadrilateral bone that forms the prominence of the cheek
fetal bleb presence of subepidermal blister-like structures on the skin, often on the head, formed during embryonic development and usually filled with blood
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
acromion hypoplasia decrease in the number of normal cells in normal arrangement in the acromion, typically resulting in decreased size
kidney cortex cyst presence of one or more abnormal membranous sacs in the kidney cortex
kidney medulla cyst presence of one or more abnormal membranous sacs in the kidney medulla
pancreas cyst presence of one or more abnormal fluid-filled sacs within the pancreas
polyhydramnios A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac.
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 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
abnormal CNS synaptic transmission defect in the communication from a neuron to a target across a synapse in the central nervous system
reduced long-term potentiation less than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells
abnormal inhibitory postsynaptic potential defect in the membrane potential detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization
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
decreased brain copper level a reduced amount of copper in the brain tissue compared to controls
abnormal 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
ataxia
impaired coordination reduced ability to execute integrated movements of muscle
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 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
muscle weakness Reduced strength of muscles.
respiratory distress
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
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 stationary movement altered ability or inability to change body posture or shift a body part
impaired balance reduced ability of an animal to maintain equilibrium
female infertility
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
gliosis The presence of gliosis in the central nervous system.
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
jerky movement continuous, abrupt, faltering motions of the whole body or a portion of the body
decreased thymus weight reduction in the average weight of the primary lymphoid organ that is required for maturation of T cells
preweaning lethality, incomplete penetrance 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 motor capabilities/coordination/movement altered ability to coordinate voluntary movement or repetitive, compulsive movements
limb grasping mice clasp front and/or hind feet almost immediately upon being lifted by tail
decreased locomotor activity general reduction in locomotor activity; reduced movement from one place to another
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
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 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
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
small cerebellum reduced size of cerebellum
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
abnormal motor learning anomaly in the ability to repeat a motor task requiring well coordinated movements and balance; measures cerebellar dependent learning
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
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
abnormal limb posture atypical intentionally or habitually assumed position of the limbs compared to the normal carriage of the body
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
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
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
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
abnormal olfactory bulb glomerular layer morphology
abnormal olfactory bulb granule cell layer morphology
abnormal olfactory bulb internal plexiform layer morphology
abnormal olfactory bulb mitral cell layer morphology
abnormal cerebellar layer morphology any structural anomaly of the laminar structure of the cerebellar cortex comprising the gray matter of the cerebellum
decreased grip strength reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire
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
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
retarded hair growth slow growth of the hair, appears at normal time
sparse hair Reduced density of hairs.
absent duvet hair absence of the of the fine under hair of the coat
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
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
thin cerebellar granule layer reduced thickness of the innermost cortical layer of the cerebellum that contains granule cells
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
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
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
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
abnormal kidney physiology
postnatal lethality premature death anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)
abnormal muscle physiology any functional anomaly of the muscle, not due to an anatomical defect
muscular atrophy
hindlimb paralysis loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply
progressive muscle weakness
demyelination
abnormal action potential change in the electric response of a nerve or other excitable tissue to its stimulation
abnormal nerve conduction anomaly in the act of transmitting electricity along a single nerve
abnormal endplate potential defect in the excitatory response of peripheral synapses to stimulation; these amplitudes are larger than central synapse potentials
abnormal muscle tone
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
paraparesis Weakness or partial paralysis in the lower limbs.
head bobbing repetitive up and down movement of the head
abnormal involuntary movement anomaly in movements that occur independent of planning (e.g. reflexive behavior)
abnormal ear morphology any structural anomaly of any of the structures involved in the ear or vestibular system
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
deafness An inherited or acquired condition characterized by a partial or complete loss of hearing in one or both ears. The level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing.|An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears.|A partial or complete loss o f hearing in one or both ears; the level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing.
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 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
absent cochlear hair cells absence of the sensory epithelial cells of the cochlea; these cells are normally in synaptic contact with the auditory nerve
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
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
abnormal motor coordination/balance altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium
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
absent startle reflex failure to respond to variable stimuli, often auditory; usually measured by amplitude of whole body flinch
decreased salivation
remittent intestinal hemorrhage loss of blood from the intestines that is characterized by temporary periods of abatement
spinning repetitive rolling of the body
abnormal colon morphology any structural anomaly of the portion of the large intestine between the cecum and the rectum
small intestinal prolapse
decreased systemic arterial blood pressure
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
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)
abnormal ear physiology any functional anomaly of the ear, not due to an anatomical defect
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
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
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
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
absent pinna reflex complete failure to respond to an auditory stimulus by a characteristic ear twitch
coiled cecum corkscrew or worm-like appearance of the large sac at the ileum and large intestine junction
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
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
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 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 circulating cholesterol level
abnormal cholesterol homeostasis
dry eyes
abnormal lipid homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of lipids in the fluids and tissues
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
narrow eye opening
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
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
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 oocyte morphology any structural anomaly of the mature germ cells in the female
macrocytosis condition in which erythrocytes are larger than normal in size
poikilocytosis The presence of abnormally shaped erythrocytes.
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
abnormal adrenal gland physiology any functional anomaly of the surparenal gland, including the ability to produce and secrete hormones
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
abnormal cellular cholesterol metabolism impaired regulation of cellular cholesterol levels
failure of zygotic cell division inability of a fertilized oocyte to initiate or complete early cell divisions
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 egg activation any anomaly in the series of biochemical and morphological events that converts a metaphase-II-arrested oocyte into a fertilized egg ready to begin embryogenesis; in most mammals, oocyte activation is a spatial-temporal regulated process induced by sperm entry that involves early events such a transient rise in intracellular calcium concentration, cortical granule exocytosis and meiotic cell-cycle resumption, and later events such as pronuclear formation, translation of maternal mRNAs and meiosis-to-mitosis transition
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 bone marrow cavity morphology any structural anomaly of the medullary cavities of the bones
abnormal bone marrow morphology any structural anomaly of the soft tissue that fills the cavities of bones
increased inflammatory response A abnormal increase in the inflammatory response to injury or infection.
osteopetrosis An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
abnormal tooth eruption anomalies in the passage of a tooth through the alveolar process and perforation of the gums
decreased compact bone thickness thinner than normal superficial layer of compact bone
absent incisors
failure of tooth eruption inability of the teeth to grow into the oral cavity
delayed endochondral bone ossification late onset of bone formation in bones that form from cartilage
abnormal bone structure Any anomaly in the composite material or the layered arrangement of the bony skeleton.
abnormal long bone diaphysis morphology any structural anomaly of the main or mid section (shaft) of a long bone
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
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
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
increased trabecular bone mass greater total amount of trabecular bone tissue contained in the skeleton
broad face Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).
periodontium inflammation local accumulation of fluid, plasma proteins, and leukocytes in the periodontium (including the gums and supporting structures of the teeth)
failure to gastrulate inability to differentiate and invaginate the primary germ layers
decreased inner cell mass proliferation
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
absent common myeloid progenitor cells lack of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages
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
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 vein morphology any structural anomaly of the blood vessels that carry blood towards the heart
delayed heart looping late onset of the initiation and/or completion of looping of the primitive heart tube
aphagia failure to eat
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
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
lowered ear position outer ears are situated below the normal location often giving the perception of protruding from the head
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
loose skin condition in which the skin hangs in folds
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
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 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
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.
absent dermatome absence of the mesoderm that is derived from the somite that is fated to become the dermis
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
abnormal kidney development any anomaly in the differentiation of the paired organs responsible for urine secretion
renal hypoplasia Hypoplasia of the kidney.
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 spleen development aberrant formation or incomplete differentiation of the organ that filters blood and stores red corpuscles and platelets
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
small gonad
abnormal kidney vasculature morphology any structural anomaly of the network of tubes that carries blood through the organ of excretion
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
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
abnormal kidney medulla morphology any structural anomaly of the inner portion of the kidney consisting of the renal pyramids
sex reversal Development of the reproductive system is inconsistent with the chromosomal sex.
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 lung vasculature morphology any structural anomaly of the blood vessels of the lung
decreased renal glomerulus number reduced number of the capillary loops of the kidney that normally function as a filtration unit
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
abnormal lung epithelium morphology any structural anomaly of the epithelial layer of the lung
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
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
dilated respiratory conducting tube expansion or widening of the lumen of one or more of the tubes of the respiratory system that allow passage of air from the trachea to the alveoli of the lungs
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
abnormal pulmonary acinus morphology any structural anomaly of the part of the airway consisting of a respiratory bronchiole and all of its branches
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)
abnormal branching involved in ureteric bud morphogenesis anomaly in the process in which the branching structure of the ureteric bud is generated and organized
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
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
impaired branching involved in alveolar sac morphogenesis partial or complete failure of the process in which the terminal alveolar sacs are generated
decreased nephron number
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 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
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 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
abnormal ovary topology any anomaly in the position of the ovary in relation to other structures
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
decreased single-positive T cell number reduced number of T cells bearing either CD4 or CD8 markers on their surface
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
weight loss Reduction inexisting body weight.
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
failure of 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 long bone hypertrophic chondrocyte zone anomaly of the layer of the epiphyseal plate of a long bone where chondrocytes mature and enlarge
extramedullary hematopoiesis The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.
decreased circulating insulin level less than normal levels of insulin in the blood
delayed tooth eruption postponed onset of the growth of the teeth out of the gums
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
abnormal osteoclast morphology any structural anomaly of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue
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
abnormal predentin morphology any structural anomaly of the initial type I collagen-rich unmineralized extracellular matrix synthesized and secreted by odontoblasts and located at the dentin-pulp interface; predentin is converted to dentin when hydroxyapatite crystals are deposited on the predentin
short limbs reduced average length of the extremities
decreased circulating calcium level
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
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 bone mineralization defect in the process by which minerals are deposited into bone
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.
absent compact bone absence of the outer layers of solid, hard bone that covers spongy bone
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)
absent teeth absence of some or all of the bony structures of the upper and lower jaws used in mastication
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
abnormal hair follicle orientation misaligned hair follicles; hair follicles that do not orient in a typical pattern
increased curvature of hairs greater bending arch of the distinct C- or S- shaped curvature of the hairs
waved hair
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
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 adipose tissue distribution alterations in the normal placement of body fat
abnormal hair follicle morphology any structural anomaly of the invagination of the epidermis from which the hair shaft develops
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
corneal scarring
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
disheveled coat coat that looks generally unkempt
abnormal eyelid aperture any anomaly in the normal distance from one eyelid to the other, or closure of the eyes
abnormal hair shaft morphology any structural anomaly of the cuticle, cortex and/or medulla of a hair
abnormal hair medulla anomalies of hair medullary cell formation and arrangement of the innermost core of the hair shaft
absent Descemet membrane absence of the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea
ruptured lens capsule a break or tear in the elastic, clear, membrane-like structure, that is outer most layer of the lens
retina neovascularization formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina
abnormal eyelid development aberrant formation of the skin folds covering the front of the eyeball
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
eyelid hyperplasia overdevelopment or increased size of the skin folds covering the front of the eyeball, usually due to an increased cell number
orbicularis oculi muscle hypoplasia decrease in the number of normal cells in normal arrangement in the orbicularis oculi muscle, typically resulting in decreased size
abnormal coat/ hair morphology any anomaly in the color, structure, growth, or texture of the hair
abnormal hair texture irregular or unusual appearance of the structure of the hair
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 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
abnormal coat appearance anomaly in the visual apsect of the coat or hair
corneal opacity A reduction of corneal clarity.
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.
abnormal corneal stroma development anomalous differentiation of the lamellated connective tissue layer of the cornea
keratoconjunctivitis
abnormal hair follicle development any anomaly in the development of the epidermis from which the hair shaft develops
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
decreased guard hair length reduction in the length of the long, straight truncal hairs that contain two air cells in the medulla
increased corneal stroma thickness increased width of the lamellated connective tissue layer of the cornea
colonic necrosis morphological changes resulting from pathological death of some or all colon tissue; usually due to irreversible damage
gastric necrosis morphological changes resulting from pathological death of gastric tissue; usually due to irreversible damage
pancreas inflammation
salivary gland inflammation
atrial endocarditis inflammation affecting the atrial chambers of the heart
abnormal atrial thrombosis any anomaly in the formation or presence of one or more thrombi in the atria of the heart
myocarditis An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.
pericarditis A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain.
interstitial pneumonia
cachexia Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
lymph node inflammation
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
phlebitis A vein disease that is characterized by inflammation of a vein.
abnormal placing response altered ability to stretch and lift the forelimbs and head to grab a close edge
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
cochlear inner hair cell degeneration degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti
cochlear outer hair cell degeneration degeneration or loss of the columnar outer hair sensory cells of the organ of Corti
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
abnormal cochlear hair cell development atypical initial production, differentiation, migration or maturation of the sensory epithelial cells of the cochlea
retropulsion a tendency to step or walk backwards
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
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
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 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
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
microcytosis the presence of unusually small erythrocytes in the circulating blood
decreased mean corpuscular hemoglobin less than the average levels of hemoglobin contained in an erythrocyte
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
increased erythrocyte cell number greater number of the cells that transport oxygen, red blood cells, per unit
decreased liver iron level reduction in the amount of iron present in the liver tissue
decreased spleen iron level reduction in the amount of iron present in the spleen tissue
decreased erythroid progenitor cell number reduced numbers of progenitors of the erythrocyte lineage
increased T cell derived lymphoma incidence higher than normal incidence of a group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes
decreased neuron apoptosis decrease in the number of neurons undergoing programmed cell death
decreased cellular sensitivity to ultraviolet irradiation reduced incidence of cell death following exposure to ultraviolet irradiation
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
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
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
abnormal mitochondrial morphology Any structural anomaly of the mitochondria.
gastric polyps abnormal tissue masses that protrude into the lumen of the stomach and are tethered to the wall of the stomach
colon polyps abnormal tissue masses that protrude into the lumen of the colon and are tethered to the wall of the colon
aneuploidy chromosome count is not an exact multiple of the haploid number
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
abnormal protein level anomaly in the amount of any of the macromolecules consisting of long chains of amino acids in peptide linkage
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
increased mammary adenocarcinoma incidence
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 leukemia incidence
increased lung adenocarcinoma incidence
abnormal tumor morphology any structural anomaly of a given tumor type compared to controls
intestine polyps
increased pancreas tumor incidence
increased adenocarcinoma incidence higher than normal incidence of a malignant neoplasm of epithelial cells in a glandular or glandular-like pattern
increased histiocytic sarcoma incidence greater than the expected number of malignant tumors derived from histiocytes in a given population in a given time period
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
absent lacrimal glands missing the glands that secrete tears
absent sebaceous gland absence of the holocrine glands of the dermis that secrete sebum into the hair follicles
abnormal female reproductive system morphology any structural anomaly of the organs associated with producing offspring in the gender that bears the offspring
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 esophageal epithelium morphology any structural anomaly of the epithelial layer that lines the luminal space of the esophagus
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 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
absent prostate gland missing gland in males that secretes part of the seminiferous fluid
absent epidermis missing the epidermal cell layer in the skin
absent carpal bone absence of any or all 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 radius Missing radius bone associated with congenital failure of development.
absent tooth placode missing the local thickening that is normally formed within the primary dental lamina and grows into a solid epithelial tooth bud that invades the underlying mesenchyme; the placodes consist of thickened epithelium and underlying neural crest derived mesenchyme, and they function as the first signaling centers of the tooth
absent hair follicles missing epidermal invaginations from which the hair shaft develops
abnormal esophageal squamous epithelium morphology any structural anomaly of the scaly epithelial layer of the esophagus
abnormal stomach non-glandular epithelium morphology any structural anomaly of the squamous epithelium that lines the distinct rodent non-glandular region of the stomach, i.e. the forestomach (aka anterior or proximal stomach); in neonatal and adult mice, this epithelium is stratified, fully keratinized, and devoid of gastric glands
abnormal urinary bladder urothelium morphology any structural anomaly of the epithelial lining of the luminal space of the urinary bladder
abnormal uterine cervix epithelium morphology any structural anomaly of the epithelial layer of the cervix
abnormal vagina epithelium morphology any structural anomaly of the epithelial layer of the vagina
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
absent urinary bladder urothelium missing the transitional epithelial layer of the urinary bladder
thin urinary bladder urothelium decrease in the thickness of the transitional epithelial layer of the urinary bladder
absent tongue squamous epithelium missing the scaly epithelial layer of the tongue
gastric metaplasia
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
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
rectovaginal fistula The presence of a fistula between the vagina and the rectum.
absent ovary absence of the female reproductive gland containing the germ cells
absent oviduct absence of the tube through which the ova pass from the ovary to the uterus
small limb buds reduced size of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs
clitoris hypoplasia
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
abnormal prostate gland branching morphogenesis anomaly of the prostatic bud to repeatedly divide into lobules during development of the prostate gland
small tail bud decreased size or area of the primordial region of the embryo that arises to form the tail of the adult
periorbital edema Edema affecting the region situated around the orbit of the eye.
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
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.
chronic inflammation
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)
submission towards male mice no domineering, assault posture nor hostile physical action toward male mice
gastrointestinal hemorrhage Hemorrhage affecting the gastrointestinal tract.
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
hydrocephaly
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
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
sinus inflammation
non-obstructive hydrocephaly
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
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
intraventricular hemorrhage bleeding into the brain ventricles
abnormal hippocampus morphology any structural anomaly of the deep lying structure of the cerebrum involved with memory storage and spatial navigation
dilated lateral ventricle the luminal space of one or both lateral ventricles is increased in volume or area, usually with an increase in contained fluid
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 hippocampus development improper differentiation of the hippocampus
abnormal hippocampal mossy fiber morphology absence or misprojection of axons of neuronal cells in the dentate gyrus
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 hippocampus CA3 region morphology
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 hippocampus neuron morphology any structural anomaly of one or more neurons residing in the hippocampal region of the brain
increased extremity angiosarcoma incidence higher than normal incidence of malignant neoplasm of soft tissues; thought to arise from endothelial cells of blood vessels
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
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
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
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
heart hyperplasia overdevelopment or increased size of the heart, usually due an increased number of cells
abnormal heart ventricle morphology any structural anomaly of one or both of the two lower chambers of the heart
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
obese
increased circulating insulin level
abnormal hearing physiology any functional anomaly in the ability to perceive auditory stimuli
retina degeneration retrogressive pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function
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
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
decreased retina photoreceptor cell number fewer than the expected number of rods and/or cones
abnormal retina vasculature morphology any anomaly of the structure or arrangement of blood vessels supplying the retina
retina deposits abnormal accumulation of material on the retina
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
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
impaired hearing reduced ability to perceive auditory stimuli
retina 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
retina outer nuclear layer degeneration a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones
photoreceptor outer segment degeneration retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin
increased food intake increase in the total number of calories/food amount taken in over time when compared to the normal state
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
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
increased susceptibility to age related obesity increased probability of excessive weight gain that is progressive with age
thin retina outer nuclear layer reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones
increased retina apoptosis increase in the number of cells in the retina undergoing programmed cell death
abnormal skeletal muscle fiber morphology any structural anomaly of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles
axonal dystrophy axon degeneration that may result from genetic abnormalities or inadequate or faulty metabolism
scoliosis An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)
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
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
absent proximal rib missing part of rib structures near the spine, ribs do not contact vertebrae
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
asymmetric costovertebral joints loss of bilateral symmetry in rib attachments to the vertebral column
disorganized dorsal root ganglion loss of segmentation pattern of dorsal root ganglia or loss of regular spacing between the ganglia
fusion of vertebral bodies improper union of the main cylindrical portion of adjacent vertebra ventral to the vertebral canal
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 cell adhesion altered ability of a cell to adhere to another cell or to a non-cellular component of the environment
decreased myocardial fiber number decreased number of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart
absent heart valves failure to form all of the membranous folds of the heart that prevent reflux of fluid
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
small forelimb buds reduced size of the limb bud that normally develops into a forelimb (usually the arm or front limb in mammalian species)
small brain ventricles decreased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord
abnormal gametogenesis defective formation or differentiation of germ cells
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 fertility/fecundity anomaly in the reproductive capability of an organism or population to produce live offspring
abnormal trabecular bone morphology Abnormal structure or form of trabecular bone.
abnormal limb bone morphology any structural anomaly of the limb or autopod bones
abnormal male reproductive system morphology any structural anomaly of the organs associated with producing offspring in the gender that produces spermatozoa
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 spermatogenesis Incomplete maturation or aberrant formation of the male gametes.
abnormal fibula morphology any structural anomaly of the lateral and smaller bone of the lower limb
alopecia A hypotrichosis that is characterized by a loss of hair from the head or body.
dermal cyst presence of one or more abnormal membranous sacs in the dermis
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
dermatitis A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.
decreased circulating phosphate level
male infertility
decreased bone mineral density reduction 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
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
uterus hypoplasia
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
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
oligozoospermia disease cluster belonging to disease group reproduction
asthenozoospermia loss or reduction of the mobility of the spermatozoa, frequently associated with infertility
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
increased circulating alkaline phosphatase level elevated concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters
abnormal skin development anomaly in the formation of the membranous protective covering of the body
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
abnormal large intestine crypts of Lieberkuhn morphology any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine
increased testis weight greater average weight of the male reproductive glands
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
dilated seminiferous tubule the luminal space of one or more of the seminiferous tubules is increased in volume or area, usually with an increase in contained fluid
decreased splenocyte proliferation reduction in the expansion rate of a splenocyte cell population by cell division
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
dilated hair follicle the luminal space of one or more of the hair follicles is increased in volume or area, sometimes with an increase of contained fluid or sebum
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
decreased intestinal calcium absorption reduced ability of the body to take up calcium into the blood by absorption from the small intestine
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)
flat face Absence of concavity or convexity of the face when viewed in profile.
decreased hair follicle cell proliferation reduction in the expansion rate of a hair follicle cell population by cell division
abnormal vitelline vein morphology any structural anomaly of the paired veins that carry blood from the yolk sac back to the embryo
increased embryonic neuroepithelium apoptosis increase in the number of cells of the embryonic neuroepithelium undergoing programmed cell death
hepatic steatosis The presence of steatosis in the liver.
vacuolated lens fluid filled cavities are present in the cytoplasm of the transparent structure of the eye responsible for focusing light
oligodactyly A developmental defect resulting in the presence of fewer than the normal number of digits.
short fibula reduced length of the lateral and smaller of bone of the lower leg
decreased presacral vertebrae number reduced number of the vertebrae anterior to the sacrum
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
scapular bone foramen presence of a hole in either or both of the large, flat bones of the back part of the shoulder
abnormal uterus morphology any structural anomaly of the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth
small uterus reduced size of the female muscular organ of gestation
abnormal oviduct morphology any structural anomaly of the tube through which the ova pass from the ovary to the uterus
abnormal uterus development abnormal morphogenesis of the female muscular organ of gestation
absent ulna Missing ulna bone associated with congenital failure of development.
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
short oviduct length reduction or truncation of the tube through which the ova pass from the ovary to the uterus
thin uterus reduced thickness or depth of the female muscular organ of gestation
absent endometrial glands absence of the simple or branched tubular uterine glands
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 uterine epithelium development any anomaly in the progression of an epithelium of the uterus over time from its initial formation to the mature structure
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
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 parental behavior altered behavior of animals that affects the ability of offspring to survive
increased Leydig cell number increased number of the interstitial cells found adjacent to the seminiferous tubules in the testicle that produce testosterone in the presence of luteinizing hormone
abnormal spermiogenesis anomaly in the process by which a spermatid transforms into a functional spermatozoon
seminiferous tubule degeneration a retrogressive impairment of function or destruction of the tubules in the testes where spermatogenesis occurs
small seminiferous tubules reduced diameter of the tubules in the testes where spermatogenesis occurs
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.
decreased Sertoli cell number decreased number of the supporting cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis
abnormal spermatid morphology any structural anomaly of the male germ cells that without further cell division give rise to mature spermatozoa
nuclear cataract A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.
abnormal skeleton physiology any functional anomaly of the bony framework of the body
fragile skeleton
decreased chondrocyte number fewer than normal numbers of polymorphic cells that form cartilage
small spleen decreased spleen size
small thymus reduced size of the thymus
increased brain size larger than the normal physical proportions of the brain
decreased hematocrit less than the average percentage of a volume of a blood sample occupied by red blood cells
decreased circulating alkaline phosphatase level reduced concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters
enlarged kidney larger than average size of the kidney
decreased circulating insulin-like growth factor I level reduced blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities
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
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
decreased bone mineral density of femur reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
lethargy A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
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 circulating ammonia level
short photoreceptor outer segment decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin
oroticaciduria increased level of orotic acid, an intermediate of pyrimidine synthesis, in the urine
decreased circulating citrulline level reduction in the amount per unit of blood of citrulline
increased circulating ornithine level increase in the amount per unit of blood of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis
decreased circulating ornithine level reduction in the amount per unit of blood of ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis
decreased circulating arginine level reduction in the amount per unit of blood of arginine, an alpha-amino acid that is glycine in which the alpha- is substituted by a 3-guanidinopropyl group
decreased circulating phenylalanine level reduction in the amount per unit of blood of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin
abnormal tooth morphology atypical size, shape or hard tissue structure of the teeth
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
absent limb buds missing the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs
embryonic lethality between implantation and somite formation, incomplete penetrance 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)
excessive folding of visceral yolk sac the appearance of wrinkles or folds on the surface of the visceral yolk sac
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
abnormal chondrocyte morphology any structural anomaly of a polymorphic cell that forms cartilage
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
absent cochlear inner hair cells absence of the single row of flask-shaped inner hair sensory cells of the organ of Corti
absent cochlear outer hair cells absence of the columnar outer hair sensory cells of the organ of Corti
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
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
abnormal endochondral bone ossification anomaly in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone
micromelia The presence of abnormally small extremities.
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
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
protruding tongue Tongue extending beyond the alveolar ridges or teeth at rest.
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
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
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
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 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
abnormal spleen morphology any structural anomaly of the organ that functions to filter blood and to store red corpuscles and platelets
increased susceptibility to infection
increased granulocyte number greater than expected number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils
decreased IgM level less than normal immunoglobulin class M level
arrested B cell differentiation inability to produce mature B cells, and accumulation of B cell precursors
arrested T cell differentiation failure of T cell formation to proceed past a defined stage
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
increased macrophage cell number greater than the normal numbers of macrophages
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 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
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
lymph node hypoplasia Underdevelopment of the lymph nodes.
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 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 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
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
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
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
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
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
abnormal long-term potentiation alterations in a persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells
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 locomotor activation altered ability or desire of an animal to initiate locomotor activity
astrocytosis Proliferation of astrocytes in the area of a lesion of the central nervous system.
hematoma
increased susceptibility to induced thrombosis increased frequency, rate or severity of thrombus formation following stimulation of thrombosis by an external agent
absence seizures Recurrent absence seizures are generalized seizures and are characterized by a loss of consciousness, thus, are a form of dialeptic seizures.
abnormal locomotor coordination reduced ability of an animal to maintain skillful and effective interaction of movements while engaging in behavioral locomotor activity
short vibrissae decreased length of the stiff hairs projecting from the face around the nose of most mammals which act as touch receptors
increased heart weight greater than average weight of the heart compared to controls
thick ventricular wall increased depth of the cardiac wall of the heart ventricles
abnormal fetal cardiomyocyte proliferation anomaly in the ability of the differentiating cardiac muscle cell population to undergo expansion by cell division
abnormal trabecula carnea morphology any structural anomaly of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart
enlarged myocardial fiber increased size of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart
thick aortic valve an increase in the ratio of the aortic valve wall thickness to the aortic wall thickness
abnormal bronchiole epithelium morphology any structural anomaly of the epithelial layer of the bronchioles
abnormal conjunctival sac morphology any structural anomaly of the space bound by the conjunctival membrane between the palpebral and bulbar conjunctiva, into which the lacrimal fluid is secreted; it is a closed space when eye is closed; when eye is open, the sac is open anteriorly through the palpebral fissure (between the eyelids)
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.
hunched posture stooped low with the limbs pulled in close to the body and arched back
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
brain inflammation
eye inflammation an inflammation in the eye(s)
heart inflammation local accumulation of fluid, plasma proteins, and leukocytes in the heart
liver inflammation
stomach inflammation
increased leukocyte cell number
enlarged lymph nodes
multifocal hepatic necrosis morphological changes resulting from multiple localized areas of pathological death of liver tissue; usually due to irreversible damage
lung inflammation
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
myocardium necrosis morphological changes resulting from pathological death of myocardial tissue; usually due to irreversible damage
gastric ulcer A peptic ulcer of the gastric mucosa.
myositis An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.|Inflammation of a muscle or muscle tissue.
skin inflammation local accumulation of fluid, plasma proteins, and leukocytes in the skin
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
lacrimal gland inflammation
lethality at weaning, complete penetrance 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
diaphragmitis inflammation of the diaphragm
increased circulating creatinine level greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction
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
renal tubular necrosis morphological changes resulting from pathological death of renal tubular tissue; usually due to irreversible damage
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
xanthoma
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
dehydration
decreased urine osmolality reduction in the amount of ions in the urine compared to the normal state
decreased urine sodium level lower than normal amount of sodium in the urine
increased blood osmolality increase in the concentration of ions in the blood compared to the normal state
abnormal renal water transport any anomaly in the directed movement of water (H2O) by the kidney
polydipsia Excessive thirst manifested by excessive fluid intake.
polyuria An increased rate of urine production.
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 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 salivary gland physiology any functional anomaly of any of the glands in the mouth that secrete saliva
increased urine glucose level
abnormal corpus luteum morphology any structural anomaly of the yellow endocrine body formed in the ovary after follicle rupture
abnormal pancreatic islet morphology any structural anomaly of the clusters of hormone-producing cells that are scattered throughout the pancreas
impaired luteinization atypical transformation of the mature ovarian follicle and its theca interna into a corpus luteum after ovulation
abnormal glucose homeostasis Abnormality of glucose homeostasis.
abnormal cell-mediated immunity abnormal function of any adaptive immune response in which T cells play a main role
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
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
increased bone marrow cell number increased number of cells that make up the core cavities of bones when compared to the normal state
abnormal mucosa-associated lymphoid tissue morphology any structural anomaly of the regional immune system associated with the mucosa
skin lesions focal pathological and/or inflammatory changes characterized by alteration in the size, shape and organization of the cellular components of the skin
hypoglycemia
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 lymph node cortex morphology any structural anomaly in the outer area of the lymph node that has B and T cell domains
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
enlarged spleen
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 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
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 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
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 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 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
increased IgG level An abnormally increased level of immunoglobulin G in blood.
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
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
decreased circulating free fatty acids 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
glomerulonephritis A nephritis that causes inflammation of the glomeruli located_in kidney.
enlarged submandibular lymph nodes increased size of the submandibular lymph nodes
abnormal enzyme/coenzyme level altered level of any enzyme or their cofactors, that act as catalysts to induce chemical changes in other substances
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
decreased percent body fat/body weight less fat, relative to controls, expressed as a percentage of total body weight
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 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
increased insulin sensitivity greater ability to clear glucose from the bloodstream when given insulin than normal; can result in hypoglycemia
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
hemosiderosis An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload.
abnormal adipose tissue physiology any functional anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue
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
abnormal gluconeogenesis anomaly in the formation of glucose from non-carbohydrates, such as proteins or fat
impaired lipolysis reduction in the rate of the hydrolysis of fat into free fatty acids
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
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
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
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
decreased gonadal fat pad weight less than average weight of the encapsulated adipose tissue associated with the ovaries or testes
decreased uterine fat pad weight less than average weight of the encapsulated adipose tissue associated with the uterus
enlarged inguinal lymph nodes increased size of the lymph nodes located in the groin area
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
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
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
expanded mesangial matrix
increased mesangial cell number 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
increased muscle cell glucose uptake increased ability of muscle cells to take in glucose
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
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
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
absent enteric neurons absence of the neurons that innervate the esophagus, stomach, small and large bowel
aganglionic megacolon extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus
variable body spotting the appearance of patches of white fur at random on the coat
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 choroid pigmentation anomalous coloring of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera
white spotting the appearance of patches of white fur
intestinal obstruction
abnormal hair follicle melanocyte morphology any structural anomaly of the cells that produce pigment in the hair follicles
variable depigmentation
abnormal bone marrow cell number increased or decreased number of cells that make up the core cavities of bones when compared to controls
enlarged liver larger than average size of the liver
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
increased aggression towards male mice when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward male mice
accelerated hair follicle regression earlier onset of catagen phase during the cyclic transformation of the hair follicle
prostate gland epithelial hyperplasia epithelium is multi-layered instead of columnar and has increased cell number
decreased litter size fewer live born pups in a litter compared to average
impaired ovarian folliculogenesis a block in the formation of the spherical ovum in the ovary
spleen hyperplasia overdevelopment or increased size, usually due to increased cell number, in the spleen
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
increased monocyte cell number
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 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 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)
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 corpora lutea number fewer than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrous cycle
increased systemic arterial blood pressure increased tension of the blood within the systemic arteries
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
increased chronic myelocytic leukemia incidence
abnormal vascular smooth muscle physiology any functional anomaly of the nonstriated, involuntary muscle tissue of the blood vessels
abnormal vascular smooth muscle morphology any structural anomaly of the nonstriated, involuntary muscle tissue of the blood vessels
increased vasoconstriction greater ability to constrict the nonstriated, involuntary muscle tissue of the blood vessels
increased pre-B cell number greater number of progenitor cells that form the B cell component of the immune system
neuron degeneration a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses
abnormal response/metabolism to endogenous compounds altered ability or inability to metabolize or respond to substances normally present in the body
abnormal muscle electrophysiology any functional anomaly of the musculature as it relates to electrical phenomena
increased circulating insulin-like growth factor I level increased blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities
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
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 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
decreased neuron number fewer than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses