Analysis Tools
muscle
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• occurs as a result of lung inflammation
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mortality/aging
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• only half the expected number of homozygotes are found one day after birth
• the expected Mendelian ratio is observed in E18.5 embryos indicating the pups die shortly before or after birth
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embryo
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• embryos are visibly smaller than controls starting at E12.5
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reproductive system
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• there are 20-fold less mature sperm in the seminal fluid compared to wild-type littermates
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• majority of sperm are abnormal with small, rounded cell bodies and blunted or absent hooks in the tail
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• many of the sperm have flagellas that are fine and lack associated cell bodies
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• many sperm retain cytoplasm around their nucleus
• majority of sperm are abnormal with small, rounded cell bodies
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• there are decreased number of mature spermatids and increased numbers of retained elongated spermatids in the testis of some mice
• multi-nucleated germ cells occasionally occur
• retention of highly condensed spermatids occurs in most mice with some spermatids sharing acrosomes and other being larger than normal
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• all mice have increased levels of spermatocyte apoptosis
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• virtually none of the mature sperm cells are motile
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• corpora lutea are absent possibly due to failure to ovulate
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small ovary
(
J:81010
)
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• ovaries are smaller than wild-type littermates
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• there is an increase in the number and size of vacuoles within the seminiferous epithelium
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• testis are subnormal in weight
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thin uterus
(
J:81010
)
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• uterus is thin walled
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anovulation
(
J:81010
)
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• ovaries from female mice are able to form follicles but fail to ovulate
• ovulation will occur after injections with gonadotropin and choriogonadotropin
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• female mice are arrested in diestrus and do not ovulate
• defects in estrous cycle can be overcome by injections with gonadotropin and choriogonadotropin
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• females do not appear to cycle efficiently through estrus
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• only one female out of seven was able to produce offspring with a wild-type male
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• male mice are unable to produce sire with wild-type females
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growth/size/body
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• occurs as a result of lung inflammation
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short snout
(
J:81010
)
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• many mice have a short or deviated snout
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• embryos are visibly smaller than controls starting at E12.5
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• mice weigh smaller at birth compared to wild-type littermates and continue to be under weight well into adulthood
• starting at 30 days of age, many mice reach weights that is similar to controls
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• mice are 25% smaller at 2-4 months of age
• as they get older, weight differences increase to 30% at 5-8 months of age and 40% at 13-20 months of age
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vision/eye
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• in some mice the eyes are smaller possibly as result of failure of eyelids to open
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• eyelids remain closed for at least several months and sometimes for entire lifespan
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craniofacial
short snout
(
J:81010
)
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• many mice have a short or deviated snout
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endocrine/exocrine glands
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• the pancreas shows patchy atrophy of the exocrine epithelium
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• corpora lutea are absent possibly due to failure to ovulate
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small ovary
(
J:81010
)
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• ovaries are smaller than wild-type littermates
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• there is an increase in the number and size of vacuoles within the seminiferous epithelium
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• testis are subnormal in weight
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• insulin levels rise 3-fold higher than in wild-type mice in response to refeeding after overnight fast
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respiratory system
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• frequently observed in mice
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• lungs are infiltrated with neutrophils suggesting chronic pulmonary infection
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• occurs consistently in mice
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behavior/neurological
polydipsia
(
J:160869
)
polyphagia
(
J:133127
)
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• mice under a year in age comsume 20% more calories when normalized to body weight
• mice older than a year in age consume 46% more calories when normalized to bodyweight
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• mice 3-6 months of age are 50% less active than controls with the biggest differences occurring during the dark phase
• older mice are about 33% less active than controls
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• the female mouse able to produce offspring failed to nurse her pups
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homeostasis/metabolism
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• insulin levels rise 3-fold higher than in wild-type mice in response to refeeding after overnight fast
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• circulating levels of thyroxine are 20% less than in controls
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• frequently observed in mice
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• mice have a 20% higher oxygen consumption as measured by percent relative cumulative frequency of VO2 normalized to body weight
• the largest differences occur during the light period when mice are inactive
• respiratory exchange ratios indicate that mice rely more on oxidation of fatty lipids during the 6-8 hours prior to onset of the dark period
• mice increase their oxygen consumption to a higher degree than in wild-type mice when on a calorie-restricted diet for over 25 weeks
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• serum glucose levels in fasted mice are almost 30% lower than in wild-type mice
• upon refeeding, glucose levels increase to a level comparable to wild-type mice
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• urine vasopressin concentration is increased
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• several 18-22 month old mice excrete large volumes of urine with low osmolarity
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limbs/digits/tail
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• mineralization of digits is delayed relative to their wild-type littermates
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digestive/alimentary system
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• the pancreas shows patchy atrophy of the exocrine epithelium
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cardiovascular system
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• occurs as a result of lung inflammation
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immune system
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• there is a decreased number of CD8 T cells in the spleen
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• sinusoids of the liver show deposits
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• 73% of mice have anti-nuclear antibodies
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• immunoglobulin deposits in the kidney
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• lungs are infiltrated with neutrophils suggesting chronic pulmonary infection
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• occurs consistently in mice
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hematopoietic system
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• there is a decreased number of CD8 T cells in the spleen
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• sinusoids of the liver show deposits
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adipose tissue
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• inguinal fat pads are 34% smaller at 3-5 months of age and 52% smaller in mice between 1-2 years of age
• a calorie restricted diet for 25-28 weeks decreases fat pad weight to a higher degree than in wild-type mice
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cellular
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• there are 20-fold less mature sperm in the seminal fluid compared to wild-type littermates
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• majority of sperm are abnormal with small, rounded cell bodies and blunted or absent hooks in the tail
|
|
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• many of the sperm have flagellas that are fine and lack associated cell bodies
|
|
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• many sperm retain cytoplasm around their nucleus
• majority of sperm are abnormal with small, rounded cell bodies
|
|
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• there are decreased number of mature spermatids and increased numbers of retained elongated spermatids in the testis of some mice
• multi-nucleated germ cells occasionally occur
• retention of highly condensed spermatids occurs in most mice with some spermatids sharing acrosomes and other being larger than normal
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• all mice have increased levels of spermatocyte apoptosis
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• virtually none of the mature sperm cells are motile
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• liver but not skeletal mitochondria produce less ATP and have a lower proton motive force under both phosphorylating and non-phosphorylating conditions
• liver mitochondria also produce less reactive oxygen species
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nervous system
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• the brain weight is 20% smaller in both younger and older mice
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renal/urinary system
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• urine vasopressin concentration is increased
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• several 18-22 month old mice excrete large volumes of urine with low osmolarity
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• the glomeruli of 24 month old animals are hypercellular with evidence of reduced vascularity
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• immunoglobulin deposits in the kidney
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| nephrogenic diabetes insipidus | DOID:12387 | J:160869 | ||
