Mouse Genome Informatics
hm
    Alms1Gt(XH152)Byg/Alms1Gt(XH152)Byg
involves: 129P2/OlaHsd * C57BL/6J
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• body weight begins to increase between 8 - 12 weeks of age
• adiposity indices are increased 3-fold and 2-fold in females and males, respectively, compared to littermate controls

adipose tissue
• the amount of white fat is increased particularly in the subcutaneous and reproductive regions

homeostasis/metabolism
• 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
• hyperinsulnemia develops in males and females between 8 and 12 weeks of age
• at 20 weeks of age moderately increased plasma total cholesterol levels are seen; however plasma triglyceride levels are similar to controls
• micro- and macro-albuminuria is seen in males but not females at 24 weeks of age
• calcium oxalate diphosphate crystals are frequently observed in urine sediments

hearing/vestibular/ear
• 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

vision/eye
• 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
• 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

reproductive system
• variable atrophy of the seminiferous tubules from severe vacuolization with no secondary spermatocytes to testes that only lacked mature sperm is seen
• hypogonadism is seen in all homozygotes

renal/urinary system
• micro- and macro-albuminuria is seen in males but not females at 24 weeks of age
• calcium oxalate diphosphate crystals are frequently observed in urine sediments
• at 24 weeks of age, interstitial inflammation and vacuolization is seen suggesting degeneration of the tubules
• at 6 months of age, kidneys are enlarged
• at 6 months of age, kidneys are about twice the weight of normal kidneys
• at 6 months of age, the proximal tubules are dilated and contain eosin-positive, flocculent material

liver/biliary system
• macro- and micro-vesicular lipid deposits are seen in 24 - 30 week old mice

cellular
N
• cilia assembly and morphology of cilia in the nasal epithelium, renal tubules, and retina are normal

immune system
• at 24 weeks of age, interstitial inflammation and vacuolization is seen suggesting degeneration of the tubules

endocrine/exocrine glands
• partial degranulation of islet beta cells is seen compared to wild-type mice
• islets are severely enlarged and hyperplastic
• 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
OMIM IDRef(s)
Alstrom Syndrome; ALMS 203800 J:100403
Obesity 601665 J:100403