Mouse Genome Informatics
hm1
    Alms1Gt(XH152)Byg/Alms1Gt(XH152)Byg
involves: 129P2/OlaHsd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 (J:100403)
• 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 (J:100403)
• 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 (J:100403)
• 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 (J:100403)

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 (J:100403)

Mouse Models of Human Disease
OMIM IDRef(s)
Alstrom Syndrome; ALMS 203800 J:100403
Obesity 601665 J:100403