IMPC Knockout Mouse Phenotypes Dataset

Description Observed phenotypes of mice following gene knockout
Measurement association by various assays depending on phenotype
Association gene-phenotype associations from phenotyping studies of knockout mice
Category disease or phenotype associations
Resource International Mouse Phenotyping Consortium
Citation(s)
Last Updated 2023 Oct 18
Stats
  1. 6763 genes
  2. 667 phenotypes
  3. 36451 gene-phenotype associations

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phenotype Gene Sets

667 sets of gene knockouts causing phenotypes in mice from the IMPC Knockout Mouse Phenotypes dataset.

Gene Set Description
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
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 allantois morphology any structural anomaly fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels
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
abnormal autopod morphology any structural anomaly of the distal elements of the limb of vertebrates including the pedal or prehensile appendages (e.g. hand, foot, paw, phalanges and/or digits)
abnormal behavior any anomaly in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls
abnormal blood urea nitrogen level aberrant circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function
abnormal blood uric acid level aberrant concentration in the blood of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine
abnormal blood vessel morphology any structural anomaly of the network of tubes that carries blood through the body
abnormal body fat mass aberrant fat-containing physical bulk or volume of the body
abnormal body wall morphology any structural anomaly of the external portion of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity
abnormal bone structure Any anomaly in the composite material or the layered arrangement of the bony skeleton.
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 caudal vertebrae morphology any structural anomaly of the bony segments of the coccyx or tail
abnormal cecum morphology any structural anomaly of the large sac at the ileum and large intestine junction
abnormal cholesterol homeostasis
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 circulating alkaline phosphatase level any anomaly in the concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters; low levels are seen in cases of hypophosphatasia
abnormal circulating calcium level any anomaly in the concentration of calcium in the blood
abnormal circulating glucose level any anomaly in the concentration in the blood of the major monosaccharide of the body
abnormal circulating iron level anomalous blood concentration of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes
abnormal circulating LDL cholesterol level any anomaly in the amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions
abnormal circulating phosphate level any anomaly in the blood concentrations of the salt or ester of phosphoric acid
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 coat appearance anomaly in the visual apsect of the coat or hair
abnormal coat/ hair morphology any anomaly in the color, structure, growth, or texture of the hair
abnormal coat/hair pigmentation irregular or unusual pigmentation of the hair
abnormal colon morphology any structural anomaly of the portion of the large intestine between the cecum and the rectum
abnormal contextual conditioning behavior anomaly in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)
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 craniofacial morphology any structural anomaly of the face or head affecting appearance
abnormal cranium morphology any structural anomaly of the bones of the head
abnormal cued conditioning behavior anomaly in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash)
abnormal digit morphology any structural anomaly of the fingers or toes
abnormal duodenum morphology any structural anomaly of the first division of the small intestine that extends from the pyloris to the junction with the jejunum
abnormal ear morphology any structural anomaly of any of the structures involved in the ear or vestibular system
abnormal ear position anomaly in the space between or the placement of the outer ears
abnormal embryo development anomaly in the establishment of the characteristic configuration of the embryonic body
abnormal embryo size any anomaly in the proportions of embryo compared to littermates (sensu Mus: up to E14, or the completion of organogenesis)
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
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 eosinophil cell number deviation from the normal numbers of eosinophils
abnormal epidermal immune compartment any anomaly in the constitution or organization of the immune cells residing in the skin epidermal layer
abnormal epididymis morphology any structural anomaly of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens
abnormal erythrocyte cell number altered number of the cells that transport oxygen, red blood cells, per unit
abnormal esophagus morphology any structural anomaly of the part of the digestive canal through which food passes from the pharynx to the stomach
abnormal eye anterior chamber depth anomaly in the distance between the iris and the cornea at the center plane (maximum distance) of the anterior chamber, compared to controls
abnormal eye morphology A structural anomaly of the eye.
abnormal eye posterior chamber depth anomaly in the distance between the iris and the lens at the center plane (maximum distance) of the posterior chamber, compared to controls
abnormal eyelid aperture any anomaly in the normal distance from one eyelid to the other, or closure of the eyes
abnormal eyelid fusion anomaly in the process by which the upper and lower eyelids are joined during development
abnormal eyelid morphology any structural anomaly of the skin folds covering the front of the eyeball
abnormal facial morphology any structural anomaly of the face
abnormal femur morphology any structural anomaly of the long bone of the thigh
abnormal fibula morphology any structural anomaly of the lateral and smaller bone of the lower limb
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 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)
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
abnormal freezing behavior any anomaly in the behavior defined as total cessation of movement apart from respiration or eye movement with the animal remaining alert with strong muscle tone; typically a response to potential danger
abnormal gait abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground
abnormal gallbladder morphology A structural anomaly of the gallbladder.
abnormal hair growth absence or reduced amount of hair or abnormal onset of hair growth cycle or development, or abnormal hair pattern
abnormal head morphology any structural anomaly of the portion of the body containing the brain and organs of sight, hearing, taste, and smell
abnormal head shape any anomaly in the characteristic surface outline or contour of a head of an organism
abnormal head size anomaly in the average size of the portion of the body containing the brain and organs of sight, hearing, taste, and smell
abnormal heart left ventricle morphology any structural anomaly of the left lower chamber of the heart
abnormal heart looping any anomaly in the characteristic morphogenetic movements where the primitive heart tube loops asymmetrically during early development; this looping brings the primitive heart chambers into alignment preceding their future integration
abnormal heart morphology Any structural anomaly of a heart.
abnormal heart position or orientation the heart is displaced from the normal left-sided position and/or orientation
abnormal heart shape any anomaly in the characteristic surface outline or contour of the heart
abnormal heart weight anomaly in the average weight of the heart compared to controls
abnormal heartbeat anomaly in the appearance of regularly spaced contractions of the heart due to defects in the frequency, rate, pattern or extent of heart contraction
abnormal hematocrit greater or less than the average percentage of a volume of a blood sample occupied by red blood cells
abnormal hemoglobin content deviation from the normal total hemoglobin content in the circulating blood
abnormal hindbrain development anomaly in the formation or pattering of the caudal region of the brain
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 hindlimb morphology any structural anomaly of the projecting caudal-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the legs or back limbs in mammalian species
abnormal humerus morphology any structural anomaly of the bone of the forelimb that articulates with the scapula above and the radius and ulna below
abnormal ileum morphology any structural anomaly of the portion of the small intestine that extends from the jejunum to the colon
abnormal incisor color anomaly in the color and shading of the incisor, which normally presents in shades of white
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
abnormal inspiratory capacity anomaly in the maximal volume of air that can be inspired after the end of a normal expiration
abnormal iris morphology any structural anomaly of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye
abnormal iris pigmentation Abnormal pigmentation of the iris.
abnormal iris transillumination any anomaly in the radial light dispersion pattern of the iris when a focused light beam is passed through it; particular dispersion pattern anomalies are indicative of abnormalities in iris pigment distribution and for the presence of glaucoma, atrophy and/or infection
abnormal jejunum morphology any structural anomaly of the portion of the small intestine that extends from the duodenum to the ileum
abnormal joint morphology An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
abnormal kidney morphology
abnormal large unstained cell number aberrant number of larger than normal cells which are unstained using routine blood count methodologies; large unstained cells (LUC) are larger than normal lymphocytes, and may be atypical lymphocytes, myeloperoxidase deficient cells or peroxidase negative blasts
abnormal lean body mass anomaly in the amount of the fat-free physical bulk or volume of the body including all its components except adipose tissue
abnormal 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
abnormal lens morphology any structural anomaly of the transparent structure of the eye responsible for focusing light rays
abnormal limb bud morphology any structural anomaly of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs
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 limb position anomaly in the location of the limbs on the body relative to other body parts or axes
abnormal lip morphology any structural anomaly of the fleshy margins of the mouth
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 liver size anomaly in the average size of the liver
abnormal locomotor activation altered ability or desire of an animal to initiate locomotor activity
abnormal locomotor behavior altered ability or inability to move from place to place in response to stimuli
abnormal lumbar vertebrae morphology any structural anomaly of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae
abnormal lung morphology any structural anomaly of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs
abnormal lymph node morphology any structural anomaly of the oval or bean shaped bodies located along the lymphatic system that consist of densely packed lymphocytes, lymph fluid and connective tissue, and is the site where acquired immune responses are launched
abnormal male genitalia morphology any structural anomaly of the masculine organs of reproduction or generation, external or internal
abnormal mammary gland morphology any structural anomaly of the compound, alveolar and apocrine accessory gland of the skin of mammals that secretes milk
abnormal mandible morphology any structural anomaly of the lower bony framework of the mouth where the inferior teeth are held
abnormal maxilla morphology any structural anomaly of the upper bony framework of the mouth where the superior teeth are held
abnormal mean corpuscular hemoglobin
abnormal mean corpuscular hemoglobin concentration deviation from the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices
abnormal mean corpuscular volume deviation from normal for the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices
abnormal midbrain development anomaly in the formation of or the patterning of the part of the brainstem developing from the middle of the three primary cerebral vesicles of the embryo
abnormal 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 motor capabilities/coordination/movement altered ability to coordinate voluntary movement or repetitive, compulsive movements
abnormal motor coordination/balance altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium
abnormal motor learning anomaly in the ability to repeat a motor task requiring well coordinated movements and balance; measures cerebellar dependent learning
abnormal mouth morphology any structural anomaly of the oral cavity
abnormal nail morphology any structural anomaly of any of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits
abnormal 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 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 neutrophil cell number A deviation from the normal range of neutrophil cell counts in the circulation.
abnormal optic disk morphology any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve
abnormal optic nerve morphology
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 otic vesicle morphology any structural anomaly of the paired sacs of invaginated ectoderm that develop into the membraneous labyrinth of the inner ear
abnormal outer ear morphology any structural anomaly of any components of the auricles or external acoustic meatus
abnormal ovary morphology any structural anomaly of the female reproductive gland containing the germ cells
abnormal pancreas morphology
abnormal pelvic girdle bone morphology any structural anomaly of the bones of the pelvis by which the limbs attach to the axial skeleton
abnormal pericardium morphology any structural anomaly of the fibroserous membrane covering the heart and beginning of the great vessels
abnormal pharyngeal arch morphology any structural anomaly of the transient structures of the embryo that develop into regions of the head, neck and ears
abnormal placement of pupils
abnormal placenta development malformed or incomplete differentiation of the organ of metabolic exchange between the fetus and mother
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
abnormal placenta size anomaly in the size or shape of the organ of metabolic interchange between fetus and mother
abnormal placenta vasculature any structural anomaly of the vessels of the placenta
abnormal platelet cell number anomaly in the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation
abnormal prostate gland morphology any structural anomaly of the gland in males that secretes part of the seminiferous fluid
abnormal QT variability anomaly in the index of beat-to-beat QT interval fluctuations (temporal QT interval variability), normally expressed as a unitless negative number reflecting beat-to-beat changes in ventricular repolarization; an increased, positive QTVI number indicates significant repolarization abnormalities
abnormal radius morphology any structural anomaly of the short bone of the lateral forearm
abnormal rectum morphology any structural anomaly of the terminal portion of the intestinal tube adjacent to the anus
abnormal red blood cell distribution width an anomaly in the coefficient of variance (reference range) of the red blood cell volume for an organism
abnormal reproductive system morphology
abnormal response to new environment altered behavioral reaction associated with placing an animal in a new location
abnormal retina blood vessel morphology any structural anomaly of any of the blood vessels supplying the retina
abnormal retina inner nuclear layer morphology any structural anomaly of the retinal layer that contains the cell bodies of bipolar, horizontal, and amacrine cells
abnormal retina morphology any structural anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors
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 retina vasculature morphology any anomaly of the structure or arrangement of blood vessels supplying the retina
abnormal rib morphology any structural anomaly of the bones forming the bony wall of the chest
abnormal sacral vertebrae morphology any structural anomaly of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae
abnormal salivary gland morphology any structural anomaly of the saliva-secreting glands of the oral cavity
abnormal scapula morphology any structural anomaly of either or both of the large, flat bones of the back part of the shoulder
abnormal seminal vesicle morphology any structural anomaly of either of the paired sac-like glandular structures situated posterolateral to the urinary bladder in the male and functioning as part of the reproductive system; each sac is pyramidal in shape and convoluted in appearance and at the anterior extremity becomes constricted into a narrow straight duct that joins the ipsilateral vas deferens to form the ejaculatory duct; seminal vesicles secrete seminal fluid and nourish and promote the movement of spermatozoa through the urethra
abnormal sinus arrhythmia any anomaly in the normal phenomenon of mild acceleration and slowing of the heart rate that occurs during the respiratory cycle
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 skin appearance anomaly in the visual aspect of the skin
abnormal skin coloration a variation in an expected skin color or complexion that may be due to inflammation, pigment defects or other causes
abnormal skin morphology any structural anomaly of the membranous protective covering of the body
abnormal sleep behavior any anomaly in the actions, reactions, or performance of an organism during a periodic, readily reversible state of reduced awareness and metabolic activity
abnormal snout morphology any structural anomaly of the anterior facial part of the face or muzzle containing the oral and nasal regions
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 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 spine curvature deviation from the typical S-shape of the spine
abnormal spleen morphology any structural anomaly of the organ that functions to filter blood and to store red corpuscles and platelets
abnormal startle reflex aberrant threshold or reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch
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 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
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 tail length any anomaly in the length of tail relative to average of a given reference population
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
abnormal testis morphology any structural anomaly of the male reproductive glands
abnormal thoracic cage shape anomaly in the overall regular dome shape of the ribcage
abnormal thymus morphology any structural anomaly of the primary lymphoid organ that is required for maturation of T cells
abnormal thyroid gland morphology any structural anomaly of the endocrine gland located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin
abnormal tibia morphology any structural anomaly of the medial and larger of the two bones of the lower leg
abnormal tooth color anomaly in the color and shading of the teeth, which normally present in shades of white
abnormal tooth morphology atypical size, shape or hard tissue structure of the teeth
abnormal trachea morphology any structural anomaly of the tube descending from the larynx and branching into the right and left main bronchi
abnormal ulna morphology any structural anomaly of the medial and larger of the two bones of the forearm
abnormal umbilical cord morphology any structural anomaly of the connective stalk between the fetus and the placenta
abnormal urinary bladder morphology any structural anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys
abnormal uterus morphology any structural anomaly of the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth
abnormal vertebrae morphology any structural anomaly of the bony segments of the spinal column
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)
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 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 vitelline vasculature morphology any structural anomaly of the vascular network that supplies the yolk sac
abnormal vitreous body morphology any structural anomaly of the transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina
abnormal vocalization an inability, decreased ability or altered ability to produce sound from the vocal organs; or a general increase or decrease in the production of vocal sound
abnormal zygomatic bone morphology any structural anomaly of the quadrilateral bone that forms the prominence of the cheek
absent adrenal gland absence of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla
absent epididymis absence of the elongated structure connected to the posterior surface of the testis, consisting of the head, body, and tail, which turns sharply on itself to become the ductus deferens (vas deferens)
absent external male genitalia absence of the external masculine genital organs, including the penis and scrotum
absent liver absence of the bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage
absent lymph nodes absence of the oval or bean shaped bodies located along the lymphatic system that consist of densely packed lymphocytes, lymph fluid and connective tissue; these are the sites where acquired immune responses are launched
absent optic nerve absence of the second cranial nerve which is responsible for conveying visual information from the retina to the brain
absent ovary absence of the female reproductive gland containing the germ cells
absent pancreas absence of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream
absent pinna reflex complete failure to respond to an auditory stimulus by a characteristic ear twitch
absent seminal vesicle absence of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens
absent spleen
absent stomach absence of the sac-like structure of the digestive canal between the esophagus and the small intestine
absent teeth absence of some or all of the bony structures of the upper and lower jaws used in mastication
absent testes absence of the male reproductive glands containing the germ cells
absent urinary bladder absence of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys
absent uterus absence of the female muscular organ of gestation
absent vibrissae absence of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors
anophthalmia Absence of the globe or eyeball.
aorta stenosis
athymia absence of the primary lymphoid organ
bleb A cell extension characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusions.
blind uterus presence of a female muscular organ of gestation that ends in a blind segment or sac and does not communicate with the cervix or vagina
brachydactyly A bone development disease characterized by short fingers and toes.
cardiovascular system phenotype the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan
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)
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.
convulsive seizures seizures characterized by uncontrolled motor activity
cornea ulcer
corneal deposits accumulation of minerals, proteins, or other anomalous substances on the cornea
corneal opacity A reduction of corneal clarity.
corneal vascularization formation of blood vessels in the cornea, which normally lacks vessels
cryptorchism
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.
cystolithiasis caliculi, or a solid concretion or crystal aggregation, found in the urinary bladder; often embedded in a glycoprotein matrix which may also contain some nonglycoproteins when associated with infection
decreased airway resistance reduced opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow
decreased alpha-beta T cell number reduced number of T cells that expresses an alpha-beta T cell receptor complex
decreased anxiety-related response when compared to controls, subjects exhibit fewer responses thought to be indicative of anxiety in behavioral tests
decreased B cell number fewer than normal number of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity
decreased B-1a cell number reduced number of the B-1 B cell subset bearing the CD5 surface marker
decreased B-2 B cell number reduced number of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells
decreased basophil cell number lower than average number of basophils as measured by the percent of the total number of leukocytes
decreased blood urea nitrogen level low circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function
decreased body length decreased measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction
decreased body temperature
decreased body weight
decreased bone mineral content reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area
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
decreased bone trabecula number decreased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force
decreased brain size
decreased brain weight lower than average weight of the brain
decreased bronchoconstrictive response reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography
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
decreased cardiac output reduction in the blood volume pumped by each ventricle per minute
decreased cardiac stroke volume reduction in the volume of blood pushed into the aorta with each beat of the heart
decreased CD11b-high dendritic cell number reduction in the number of dendritic cells expressing high levels of CD11b which usually depend on Irf4 for their development
decreased CD11b-low dendritic cell number reduction in the number of dendritic cells expressing low levels of CD11b which usually express CD8, depend on Irf8 and Batf3 for their development and are responsible for cross-presentation
decreased CD4-negative NK T cell number reduction in the number of CD4-negative NK T cells
decreased CD4-positive NK T cell number reduction in the number of CD4-positive NK T cells
decreased CD4-positive, alpha-beta memory T cell number reduced number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high
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 CD4-positive, CD25-positive, alpha-beta regulatory T cell number a reduction in the number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release
decreased CD5-positive gamma-delta T cell number reduction in the number of CD5+ gamma-delta T cells
decreased CD5-positive Ly6C-positive T cell number reduction in the number of CD5-positive T cells expressing the memory marker Ly6C
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
decreased CD8-positive, naive alpha-beta T cell number reduction in the number of the na ve regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions with a CD44-low CD62L+ phenotype
decreased circulating alanine transaminase level decreased concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction
decreased circulating alkaline phosphatase level reduced concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters
decreased circulating amylase level reduction in the concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood
decreased circulating aspartate transaminase level less than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction
decreased circulating bilirubin level reduced concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells
decreased circulating calcium level
decreased circulating chloride level
decreased circulating cholesterol level
decreased circulating creatine kinase level a reduction in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
decreased circulating creatinine level less than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction
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
decreased circulating fructosamine level decrease in the concentration in the blood of total non enzymatic glycated proteins in the blood
decreased circulating glucose level less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source
decreased circulating glycerol level reduced blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source
decreased circulating HDL cholesterol level reduced amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion
decreased circulating insulin level less than normal levels of insulin in the blood
decreased circulating iron level less than the normal concentration of iron in the blood
decreased circulating lactate dehydrogenase level reduced blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types
decreased circulating LDL cholesterol level reduced amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions
decreased circulating magnesium level
decreased circulating phosphate level
decreased circulating potassium level less than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle
decreased circulating serum albumin level
decreased circulating sodium level
decreased circulating thyroxine level reduction in the normal blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism
decreased circulating total protein level
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
decreased circulating unsaturated transferrin level reduction in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test
decreased coping response reduced ability to respond productively to a stressful situation
decreased cornea thickness
decreased dendritic cell number reduction in the number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation
decreased dendritic epidermal T cell number reduction in the number of T cells with dendritic appearance residing in the skin epidermis, usually expressing a canonical gamma-delta T cell receptor and is involved in the regulation of wound healing
decreased early germinal center B cell number reduction in the number of germinal center B cells with residual expression of IgD
decreased effector memory CD8-positive, alpha-beta T cell number reduced number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative
decreased effector memory T-helper cell number reduction in the number of CD4-positive alpha-beta T-helper cells with a CD44-positive, CD62L-negative memory phenotype
decreased eosinophil cell number fewer than normal eosinophil numbers
decreased erythrocyte cell number reduced number of the cells that transport oxygen, red blood cells, per unit
decreased exploration in new environment less amount of time spent investigating a new location
decreased fasting circulating glucose level reduction in the amount of glucose in the blood at some defined time point after eating compared to controls
decreased fluid intake reduction in the total amount of fluid taken in over time when compared to the normal state
decreased follicular B cell number reduced number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes
decreased food intake reduction in the total number of calories/food amount taken in over time when compared to the normal state
decreased freezing behavior a decreased display, frequency, or duration of freezing behavior
decreased gamma-delta T cell number reduced number of immature or mature T cells expressing an gamma-delta T cell receptor complex
decreased germinal center B cell number reduced number of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen
decreased glycosylated hemoglobin level lower than normal blood concentration of a modified form of hemoglobin with an attached saccharide molecule
decreased grip strength reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire
decreased heart left ventricle size less than average size of the left ventricle compared to the average for a particular population
decreased heart rate
decreased heart rate variability reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle
decreased heart weight less than average weight of the heart compared to controls
decreased hematocrit less than the average percentage of a volume of a blood sample occupied by red blood cells
decreased hemoglobin content decrease in the total hemoglobin content in the circulating blood
decreased immature B cell number reduced number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity
decreased immature NK cell number reduction in the number of NK cells lacking expression of the maturation marker CD11b
decreased kidney weight reduced weight of the organs responsible for urine secretion
decreased KLRG1+ CD8 alpha-beta T cell number decrease in the number of CD8+ alpha beta T cells that express KLRG1, a marker of effector and memory T cells
decreased KLRG1-positive NK cell number decrease in the number of KLRG1 positive NK cells that represent a maturation subset of NK cells and is linked to NK cell proliferation
decreased KLRG1-positive T-helper cell number reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation
decreased Langerhans cell number reduction in the number of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus
decreased large unstained cell number decreased number of larger than normal cells which are unstained using routine blood count methodologies; large unstained cells (LUC) are larger than normal lymphocytes, and may be atypical lymphocytes, myeloperoxidase deficient cells or peroxidase negative blasts
decreased late germinal center B cell number reduction in the number of germinal center B cells expressing IgG1 and lacking expression of IgD
decreased lean body mass reduced amount of the fat-free physical bulk or volume of the body including all its components except adipose (fat) tissue
decreased leukocyte cell number
decreased liver weight reduced average weight of the bile-secreting exocrine gland
decreased locomotor activity general reduction in locomotor activity; reduced movement from one place to another
decreased lung compliance reduced ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure
decreased lung elastance reduced ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance
decreased lung tissue damping reduced value of the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues
decreased lung weight reduced average weight of the lung
decreased Ly6C high monocyte number decrease in the number of monocytes that express high levels of Ly6C and low MHC class II that represent a subset of circulating inflammatory monocytes that are recruited to infected or inflamed tissues
decreased Ly6C low monocyte number decrease in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes
decreased Ly6C-positive immature NK cell number reduction in the number of immature NK cells expressing the memory marker Ly6C
decreased Ly6C-positive mature NK cell number reduction in the number of mature NK cells expressing the memory marker Ly6C
decreased Ly6C-positive NK T cell number reduction in the number of NK T cells expressing the memory marker Ly6C
decreased lymphocyte cell number fewer than normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells
decreased macrophage cell number fewer than the normal numbers of macrophages
decreased marginal zone B cell number reduced number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL
decreased marginal zone precursor B cell number reduction in the number of CD23-positive, CD21-positive B cells in the marginal zone of lymphoid tissues
decreased mature B cell number reduced number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex
decreased mature NK cell number reduction in the number of NK cells expressing the maturation marker CD11b
decreased mean corpuscular hemoglobin less than the average levels of hemoglobin contained in an erythrocyte
decreased mean corpuscular hemoglobin concentration less than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices
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
decreased mean platelet volume Average platelet volume below the lower limit of the normal reference interval.
decreased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number reduction in the number of the CD4+, CD25+ alpha-beta regulatory T cells with a CD44+ CD62L- memory phenotype
decreased memory-marker CD4-negative NK T cell number reduction in the number of memory-marker CD4-negative NK T cells with a CD44+ CD62L- phenotype
decreased memory-marker CD4-positive NK T cell number reduction in the number of memory-marker CD4-positive NK T cells with a CD44+ CD62L- phenotype
decreased memory-marker gamma-delta T cell number reduction in the number of memory-marker gamma-delta T cells with a CD44+ CD62L- phenotype
decreased memory-marker NK cell number reduction in the number of memory-marker NK cells with a CD44+ CD62L- phenotype
decreased monocyte cell number
decreased neutrophil cell number
decreased NK cell number reduction in the number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells
decreased NK T cell number reduced number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments
decreased plasmacytoid dendritic cell number reduced number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli
decreased pre-B cell number reduced number of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface
decreased pre-pro B cell number reduced number of pro-B cells that are CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative; this cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive
decreased prepulse inhibition decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus
decreased pulmonary respiratory rate fewer than the normal number of breaths per minute
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
decreased red blood cell distribution width lower than normal coefficient of variance (reference range) of the red blood cell volume for an organism
decreased regulatory T cell number reduced number of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity
decreased respiratory quotient reduction in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls
decreased skeletal muscle mass reduction in the physical bulk, or total amount of matter contained within skeletal muscle
decreased spleen weight reduction in the average weight of the organ that functions to filter blood and to store red corpuscles and platelets
decreased startle reflex greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch
decreased T cell number fewer than normal T cell numbers
decreased T-helper cell number reduction in the number of an effector T cell that provides help in the form of secreted cytokines to other immune cells
decreased thigmotaxis less than average preference for staying at the perimeter walls of an open area or in an enclosed versus exposed area; may be used as an indicator of increased anxiety response
decreased thymus weight reduction in the average weight of the primary lymphoid organ that is required for maturation of T cells
decreased tidal volume less than the normal volume of air inspired or expired during each normal respiratory cycle
decreased total body fat amount less than the normal total amount of connective tissue composed of fat cells within the entire body
decreased total retina thickness decreased width of the retina through the center plane
decreased transitional stage B cell number reduced number of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection
decreased transitional stage T1 B cell number reduced number of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative
decreased transitional stage T2 B cell number reduced number of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles
decreased urine creatinine level a reduced amount of creatinine in the urine compared to the normal state
decreased urine glucose level a reduced amount of glucose in the urine compared to the normal state
decreased urine magnesium level
decreased urine microalbumin level less than the normal amount of microalbumin in the urine
decreased vertical activity lesser than average time spent jumping or rearing
dilated aorta the luminal space of the aorta is increased in volume or area, usually with an increase of contained fluid
dilated heart left ventricle the luminal space of the lower left chamber of the heart is increased in volume or area, usually with an increase in contained fluid
distended jejunum an expansion in the volume of the portion of the small intestine that extends from the duodenum to the ileum
edema An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
embryonic growth retardation slow or limited development during the embryonic period (sensu Mus: up to E14, or the completion of organogenesis)
embryonic lethality prior to organogenesis death prior to the completion of embryo turning (Mus: E9-9.5)
embryonic lethality prior to tooth bud stage death prior to the appearance of tooth buds (Mus: E12-E12.5)
enhanced contextual conditioning behavior increase in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)
enhanced cued conditioning behavior increase in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash)
enlarged adrenal glands increased size 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
enlarged cecum increased size of the large sac at the ileum and large intestine junction
enlarged duodenum increased size of the portion of the small intestine that extends from the pyloris to the junction with the jejunum
enlarged epididymis increase in the average size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens
enlarged gallbladder increased size of the gall bladder, the organ that serves as a storage reservoir for bile
enlarged heart
enlarged heart atrium increased size of one or both of the two upper chambers of the heart, to which the blood returns from the circulation
enlarged ileum increased size of the portion of the small intestine that extends from the jejunum to the colon
enlarged kidney larger than average size of the kidney
enlarged liver larger than average size of the liver
enlarged lung increased size of the lung compared to controls
enlarged lymph nodes
enlarged ovary increased size of the female reproductive gland containing the germ cells
enlarged pancreas increase of the size of the pancreas compared to controls
enlarged prostate gland increased size of the gland in males that secretes part of the seminiferous fluid
enlarged salivary gland increased size of the saliva-secreting glands of the oral cavity
enlarged seminal vesicle increased size of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens
enlarged spleen
enlarged stomach increased size of the stomach
enlarged testis
enlarged thymus increased size of thymus
enlarged thyroid gland
enlarged urinary bladder increased size of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys
enlarged uterus
exencephaly neurocranial defects resulting in exposure or extrusion of the brain
exophthalmos An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit.
eye hemorrhage bleeding into the eye
eyelids fail to open eyes remain shut when eyelids are expected to be open
facial cleft A congenital malformation with a cleft (gap or opening) in the face.
female infertility
fused cornea and lens condition in which the transparent anterior portion of the fibrous coat of the eye is joined to the transparent biconvex cellular refractive structure lying between the iris and vitreous humor of the eye
fused phalanges anomaly of the long bones of the digits resulting in some or all the bones being joined together
fusion of vertebral arches improper union of the dorsal part of adjacent vertebra
head bobbing repetitive up and down movement of the head
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
hydrocephaly
hydrometra an accumulation in the uterine lumen of normal secretions that ordinarily drain from the body but are retained when the cervix or vagina is significantly or completely closed
hyperactivity
immune system phenotype
impaired contextual conditioning behavior decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)
impaired cued conditioning behavior decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash)
impaired glucose tolerance
impaired pupillary reflex
impaired righting response reduced ability or greater amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position
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 aggression when compared to controls, subjects exhibit greater than the normal level of domineering, assault posture and/or hostile physical action
increased airway resistance greater opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow
increased alpha-beta T cell number greater number of T cells that expresses an alpha-beta T cell receptor complex
increased anti-nuclear antigen antibody level elevated level of antibodies to nuclear antigens present in the sera
increased anxiety-related response when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests
increased B cell number greater than normal number of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity
increased B-2 B cell number greater number of conventional B cells subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells
increased basophil cell number higher than average number of basophils as measured by the percent of the total number of leukocytes
increased blood urea nitrogen level high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function
increased blood uric acid level
increased body length increased measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction
increased body temperature greater than the level of heat natural to a living being
increased body weight
increased bone mineral content elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area
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
increased bone trabecular spacing increase in the amount of space between trabeculae in cancellous bone
increased brain size larger than the normal physical proportions of the brain
increased brain weight greater than average weight of the brain
increased bronchoconstrictive response enhanced or greater than expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography
increased cardiac muscle contractility greater than the normal ability of the heart muscle to shorten or to develop increased tension, often measured by dP/dT max, fractional shortening (FS), velocity of circumferential fiber shortening (Vcfc), peak of aortic outflow velocity (PAV), and ventricular ejection fraction volume
increased cardiac output greater than normal blood volume pumped by each ventricle per minute
increased cardiac stroke volume increase in the volume of blood pushed into the aorta with each beat of the heart
increased CD103-positive CD11b-low dendritic cell number increase in the number of CD11b-low dendritic cells expressing CD103, a marker of tissue residency
increased CD11b-high dendritic cell number increase in the number of dendritic cells expressing high levels of CD11b which usually depend on Irf4 for their development
increased CD11b-low dendritic cell number increase in the number of dendritic cells expressing low levels of CD11b which usually express CD8, depend on Irf8 and Batf3 for their development and are responsible for cross-presentation
increased CD4-negative NK T cell number increase in the number of CD4-negative NK T cells
increased CD4-negative, CD25-positive NK T cell number increase in the number of CD4-negative NK T cells expressing the activation marker CD25
increased CD4-positive NK T cell number increase in the number of CD4-positive NK T cells
increased CD4-positive, alpha-beta memory T cell number increased number of CD4-positive, alpha-beta long-lived T cells with the phenotype CD45RO-positive and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high
increased CD4-positive, alpha-beta T cell number greater number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production
increased CD4-positive, CD25-positive NK T cell number increase in the number of CD4-positive NK T cells expressing the activation marker CD25
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number a greater number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release
increased CD5-positive gamma-delta T cell number increase in the number of CD5+ gamma-delta T cells
increased CD8-positive, alpha-beta memory T cell number increased number of CD8-positive, alpha-beta T cells with memory phenotype indicated by being CD45RO and CD127-positive, or also described as being CD25-negative, CD44-high, and CD122- high
increased CD8-positive, alpha-beta T cell number greater number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions
increased CD8-positive, CD25-positive alpha-beta T cell number increase in the number of CD8-positive alpha-beta T cells expressing the activation marker CD25
increased CD8-positive, naive alpha-beta T cell number increase in the number of the na ve regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions with a CD44-low CD62L+ phenotype
increased circulating alanine transaminase level increased concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction
increased circulating alkaline phosphatase level elevated concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters
increased circulating amylase level greater concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood
increased circulating aspartate transaminase level greater than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction
increased circulating bilirubin level increased concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells
increased circulating calcium level
increased circulating chloride level
increased circulating cholesterol level
increased circulating creatine kinase level an elevation in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
increased circulating creatinine level greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction
increased circulating free fatty acids level higher than normal levels of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues
increased circulating fructosamine level increase in the concentration in the blood of total non enzymatic glycated proteins in the blood
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
increased circulating glycerol level elevated blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source
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
increased circulating insulin level
increased circulating iron level elevation in the concentration of iron in the blood
increased circulating lactate dehydrogenase level elevated blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types
increased circulating LDL cholesterol level greater amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions
increased circulating lipase level elevated blood level of lipase in the blood, in particular the serum
increased circulating magnesium level
increased circulating phosphate level
increased circulating potassium level greater than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle
increased circulating serum albumin level
increased circulating sodium level
increased circulating thyroxine level greater than the normal blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism
increased circulating total protein level
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
increased circulating unsaturated transferrin level increase in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test
increased coping response enhanced ability to respond productively to a stressful situation
increased cornea thickness increased width of the cornea in the center plane
increased dendritic cell number greater number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation
increased early germinal center B cell number increase in the number of germinal center B cells with residual expression of IgD
increased effector memory CD8-positive, alpha-beta T cell number increased number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative
increased effector memory T-helper cell number increase in the number of CD4-positive alpha-beta T-helper cells with a CD44-positive, CD62L-negative memory phenotype
increased eosinophil cell number
increased erythrocyte cell number greater number of the cells that transport oxygen, red blood cells, per unit
increased exploration in new environment greater amount of time spent investigating new location
increased fasting circulating glucose level increase in the amount of glucose in the blood at some defined time point after eating compared to controls
increased fluid intake increase in the total amount of fluid taken in over time when compared to the normal state
increased follicular B cell number greater number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes
increased food intake increase in the total number of calories/food amount taken in over time when compared to the normal state
increased freezing behavior an elevated display, frequency, or duration of freezing behavior
increased gamma-delta T cell number greater number of immature or mature T cells expressing an gamma-delta T cell receptor complex
increased germinal center B cell number greater number of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen
increased glycosylated hemoglobin level greater than normal blood concentration of a modified form of hemoglobin with an attached saccharide molecule
increased granulocyte number greater than expected number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils
increased grip strength greater ability to grasp and hold objects, often measured as time spent hanging from an object or wire
increased heart left ventricle size greater than average size of the left ventricle
increased heart rate greater than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute
increased heart rate variability increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle
increased heart weight greater than average weight of the heart compared to controls
increased hematocrit An increase in the volume of packed erythrocytes in a blood specimen.
increased hemoglobin content increase in the total hemoglobin content in the circulating blood
increased immature B cell number greater number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity
increased immature NK cell number increase in the number of NK cells lacking expression of the maturation marker CD11b
increased kidney weight greater weight of the organs responsible for urine secretion
increased KLRG1+ CD4 alpha-beta T cell number increase in the number of CD4+ alpha beta T cells that express KLRG1, a marker of effector/memory and regulatory T cells
increased KLRG1+ CD8 alpha-beta T cell number increase in the number of CD8+ alpha beta T cells that express KLRG1, a marker of effector and memory T cells
increased KLRG1-positive CD4-negative NK T cell number increase in the number of KLRG1-positive CD4-negative NK T cells, a marker associated with activation
increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number increase in the number of KLRG1+ CD4+, CD25+, alpha-beta regulatory T cell number positive for KLRG1, a marker associated with activation
increased KLRG1-positive gamma-delta T cell number increase in the number of gamma-delta T cells positive for KLRG1, a marker associated with activation
increased KLRG1-positive NK cell number increase in the number of KLRG1 positive NK cells that represent a maturation subset of NK cells and is linked to NK cell proliferation
increased KLRG1-positive T-helper cell number increase in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation
increased Langerhans cell number increase in the number of stellate dendritic cells of myeloid origin, that appear clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus
increased large unstained cell number increased number of larger than normal cells which are unstained using routine blood count methodologies; large unstained cells (LUC) are larger than normal lymphocytes, and may be atypical lymphocytes, myeloperoxidase deficient cells or peroxidase negative blasts
increased lean body mass greater amount of the fat-free physical bulk or volume of the body including all its components except adipose (fat) tissue
increased leukocyte cell number
increased liver weight a greater than average weight of the bile-secreting exocrine gland
increased lung compliance increased ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure
increased lung elastance faster ability of the lung to recoil toward its resting dimensions upon removal of pressure without disruption, usually expressed as the unit volume of change in the lung per unit of decreased pressure change; the reciprocal of compliance
increased lung tissue damping increased value of the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues
increased lung weight greater than average weight of the lung
increased Ly6C high monocyte number increase in the number of monocytes that express high levels of Ly6C and low MHC class II that represent a subset of circulating inflammatory monocytes that are recruited to infected or inflamed tissues
increased Ly6C low monocyte number increase in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes
increased Ly6C-positive immature NK cell number increase in the number of immature NK cells expressing the memory marker Ly6C
increased Ly6C-positive mature NK cell number increase in the number of mature NK cells expressing the memory marker Ly6C
increased Ly6C-positive NK T cell number increase in the number of NK T cells expressing the memory marker Ly6C
increased lymphocyte cell number greater than normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells
increased macrophage cell number greater than the normal numbers of macrophages
increased marginal zone B cell number greater number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL
increased mature B cell number greater number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex
increased mature NK cell number increase in the number of NK cells expressing the maturation marker CD11b
increased mean corpuscular hemoglobin greater than the average levels of hemoglobin contained in an erythrocyte
increased mean corpuscular hemoglobin concentration greater than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices
increased mean corpuscular volume greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices
increased mean platelet volume Average platelet volume above the upper limit of the normal reference interval.
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number increase in the number of the CD4+, CD25+ alpha-beta regulatory T cells with a CD44+ CD62L- memory phenotype
increased memory-marker CD4-negative NK T cell number increase in the number of memory-marker CD4-negative NK T cells with a CD44+ CD62L- phenotype
increased memory-marker CD4-positive NK T cell number increase in the number of memory-marker CD4-positive NK T cells with a CD44+ CD62L- phenotype
increased memory-marker gamma-delta T cell number increase in the number of memory-marker gamma-delta T cells with a CD44+ CD62L- phenotype
increased memory-marker NK cell number increase in the number of memory-marker NK cells with a CD44+ CD62L- phenotype
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
increased NK cell number greater number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells
increased NK T cell number greater number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments
increased plasma cell number greater number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin
increased plasmacytoid dendritic cell number greater number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli
increased prepulse inhibition increase in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus
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
increased pulmonary respiratory rate greater than the normal number of breaths per minute
increased pulmonary ventilation increase in the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment
increased red blood cell distribution width higher than normal coefficient of variance (reference range) of the red blood cell volume for an organism
increased regulatory T cell number greater number of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity
increased respiratory quotient increase in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls
increased skeletal muscle mass increase in the physical bulk, or total amount of matter contained within skeletal muscle
increased spleen weight greater than average weight of the organ that functions to filter blood and to store red corpuscles and platelets
increased startle reflex reduced threshold or more severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch
increased T cell number greater than normal T cell numbers
increased T-helper cell number increase in the number of an effector T cell that provides help in the form of secreted cytokines to other immune cells
increased thigmotaxis greater than average preference for staying at the perimeter walls of an open area or in an enclosed versus exposed area; may be used as an indicator of increased anxiety response
increased thymus weight greater than average weight of the primary lymphoid organ that is required for maturation of T cells
increased tidal volume greater than the normal volume of air inspired or expired during each normal respiratory cycle
increased total body fat amount greater than the normal total amount of connective tissue composed of fat cells within the entire body
increased total retina thickness increased width of the retina through the center plane
increased transitional stage T1 B cell number greater number of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative
increased urine glucose level
increased urine magnesium level
increased urine microalbumin level
increased vertical activity greater than average time spent jumping or rearing
iris synechia an adhesion (synechia) of the iris to the cornea or lens of the eye that may develop from glaucoma, cataracts, uveitis, or keratitis or as a complication of surgery or trauma to the eye; synechiae may prevent or impede flow of aqueous fluid between the anterior and posterior chambers of the eye, resulting in angle closure glaucoma
irregularly shaped pupil shape defects in the aperture of the iris through which light rays enter the eye, usually circular
kyphosis Exaggerated anterior convexity of the thoracic vertebral column.
limb grasping mice clasp front and/or hind feet almost immediately upon being lifted by tail
long tibia increased length of the medial and larger of the two bones of the lower leg
lordosis
male infertility
megacolon A colonic disease that is characterized by an abnormal dilation of the colon.
microcephaly OMIM mapping confirmed by DO. [SN].
microphthalmia
mydriasis Abnormal dilatation of the iris.
narrow eye opening
no spontaneous movement failure of neonates or embryos to initiate any voluntary or spontaneous change in position or posture, with or without external stimulus
pale liver liver lacking normal coloration, often refers to bloodless condition
pale placenta placenta lacking normal reddish coloration, often refers to bloodless condition
pale yolk sac bloodless yolk sac
pallor Abnormally pale skin.
persistence of hyaloid vascular system failure of the degeneration of the transient vascular system of the eye during development, that normally nourishes the retina, immature lens and primary vitreous of the developing eye
polycystic kidney
polydactyly
polysyndactyly Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.
prenatal lethality death anytime between fertilization and birth (Mus: approximately E18.5)
prenatal lethality prior to heart atrial septation death prior to the completion of heart atrial septation (Mus: E14.5-15.5)
preweaning lethality, complete penetrance death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)
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)
prolonged PQ interval increase in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave
prolonged PR interval Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).
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
prolonged QT interval increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave
prolonged RR interval increase in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate
prolonged ST segment increase in the length of time between the end of S-wave and the beginning of T-wave; reflects the amount of time the ventricles remain electrically depolarized
protruding tongue Tongue extending beyond the alveolar ridges or teeth at rest.
respiratory system phenotype
rib fusion Complete or partial merging of adjacent ribs.
scaly skin skin covered with shedding scales
sclerocornea A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.
scoliosis An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)
short tibia Underdevelopment (reduced size) of the tibia.
shortened PQ interval decrease in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave
shortened PR interval Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.
shortened QRS complex duration decrease in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart
shortened QT interval Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
shortened RR interval reduction in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate
shortened ST segment reduction in the length of time between the end of S-wave and the beginning of T-wave; reflects the amount of time the ventricles remain electrically depolarized
single kidney
small adrenal glands reduced size 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
small cecum reduced size of the large sac at the ileum and large intestine junction
small epididymis decrease in the average size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens
small heart reduced size of the heart relative to average
small kidney reduced physical bulk one or both of the organs responsible for urine secretion
small liver reduced size of the liver
small lung reduced size of the lung compared to controls
small lymph nodes lymph nodes of decreased size
small ovary reduced size of the female reproductive gland containing the germ cells
small pancreas decrease of the size of the pancreas compared to controls
small prostate gland reduced size of the gland in males that secretes part of the seminiferous fluid
small salivary gland reduced size of the saliva-secreting glands of the oral cavity
small seminal vesicle reduced size of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens
small spleen decreased spleen size
small stomach reduced size of the stomach
small superior vagus ganglion reduced size of the upper ganglion of the vagus nerve located at the jugular foramen
small testis reduced size of the male reproductive glands
small thymus reduced size of the thymus
small uterus reduced size of the female muscular organ of gestation
spina bifida
stereotypic behavior A repetitive behaviour that does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps.
syndactyly A synostosis that results_in the fusion of two or more digits.
thick skin greater thickness of the outer protective layer of the body
thick ventricular wall increased depth of the cardiac wall of the heart ventricles
thin skin Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
thin ventricular wall decreased depth of the cardiac wall of the heart ventricles
thrombocytopenia A blood platelet disease characterized by low a platelet count in the blood.
thrombocytosis A myeloma and blood platelet disease that is characterized by the presence of high platelet counts in the blood.
tremors repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement
trunk curl posture of the trunk in a curled position
unresponsive to tactile stimuli absence of reflex action normally induced by touch or pain
urinary bladder obstruction any impediment or blockage of the musculomembranous elastic bag serving as a storage place for urine
vertebral fusion A developmental defect leading to the union of two adjacent vertebrae.
vertebral transformation homeotic transformation of a specific vertebrae to adopt the fate of another
wrinkled skin irregular folds and/or indentations on the skin