Analysis Tools
growth/size/body
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• body weight begins to increase between 8 - 12 weeks of age
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• adiposity indices are increased 3-fold and 2-fold in females and males, respectively, compared to littermate controls
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• at 6 months of age, kidneys are enlarged
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• at 6 months of age, kidneys are about twice the weight of normal kidneys
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adipose tissue
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• the amount of white fat is increased particularly in the subcutaneous and reproductive regions
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homeostasis/metabolism
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• plasma glucose levels are increased to over 250 mg/dl in males after 16 weeks of age; however in younger males and in females plasma glucose levels are only slightly elevated
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• hyperinsulnemia develops in males and females between 8 and 12 weeks of age
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• at 20 weeks of age moderately increased plasma total cholesterol levels are seen; however plasma triglyceride levels are similar to controls
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albuminuria
(
J:100403
)
 |
• micro- and macro-albuminuria is seen in males but not females at 24 weeks of age
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crystalluria
(
J:100403
)
|
• calcium oxalate diphosphate crystals are frequently observed in urine sediments
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hearing/vestibular/ear
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• in mice 8 months of age or older auditory brainstem response thresholds are increased to greater than 55 db sound pressure level; however morphology of the structures of the inner and middle ear appear normal
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vision/eye
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• at 24 weeks of age loss of cell bodies in the outer nuclear layer reduces it from 10 to 6 layers and the inner and outer segments are shortened
• at 24 weeks of age, mislocalization of rhodopsin to the outer nuclear layer is seen
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• at 9 weeks of age reduced cone b-wave responses are observed and by 24 weeks of age 33% of mutants show significantly reduced b-wave amplitudes
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reproductive system
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• variable atrophy of the seminiferous tubules from severe vacuolization with no secondary spermatocytes to testes that only lacked mature sperm is seen
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small gonad
(
J:100403
)
|
• hypogonadism is seen in all homozygotes
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renal/urinary system
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• at 6 months of age, kidneys are enlarged
|
|
• at 6 months of age, kidneys are about twice the weight of normal kidneys
|
albuminuria
(
J:100403
)
|
|
• micro- and macro-albuminuria is seen in males but not females at 24 weeks of age
|
crystalluria
(
J:100403
)
|
• calcium oxalate diphosphate crystals are frequently observed in urine sediments
|
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• at 24 weeks of age, interstitial inflammation and vacuolization is seen suggesting degeneration of the tubules
|
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• at 6 months of age, the proximal tubules are dilated and contain eosin-positive, flocculent material
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liver/biliary system
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• macrovesicular lipid deposits are seen in 24 - 30 week old mice
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• microvesicular lipid deposits are seen in 24 - 30 week old mice
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cellular
| N |
• cilia assembly and morphology of cilia in the nasal epithelium, renal tubules, and retina are normal
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immune system
|
• at 24 weeks of age, interstitial inflammation and vacuolization is seen suggesting degeneration of the tubules
|
endocrine/exocrine glands
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• partial degranulation of islet beta cells is seen compared to wild-type mice
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• islets are severely enlarged and hyperplastic
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• variable atrophy of the seminiferous tubules from severe vacuolization with no secondary spermatocytes to testes that only lacked mature sperm is seen
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Alstrom syndrome | DOID:0050473 |
OMIM:203800 |
J:100403 | |
| obesity | DOID:9970 |
OMIM:601665 |
J:100403 | |
