Mouse Genome Informatics
hm1
    Alms1L2131X/Alms1L2131X
involves: C57BL/6 * NOD
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Kidney abnormalities of Alms1L2131X/Alms1L2131X mice at 6 months of age

growth/size
• weight gain observed in homozygotes is due almost entirely to increase in fat mass
• mutants gain weight faster than controls between weeks 7 and 10

homeostasis/metabolism
• most older mice have normal glucose levels with hyperinsulinemia
• mice display elevated leptin levels
• a mild proteinuria is detected at 6 months of age

renal/urinary system
• kidney epithelial cell apoptosis is markedly increased at 6 months
• at 6 months of age, increased levels of proliferation are detected in the kidney cortex, unlike in wild-type kidneys
• in most cross sections of dilated tubules, 20%-50% of the epithelial cells are Ki67-positive and lack primary cilia
• a mild proteinuria is detected at 6 months of age
• at 6 months of age, most proximal (LTA-labeled) tubule cells are not ciliated, in contrast to wild-type controls
• however, aquaporin-2-labeled collecting duct cells exhibit clear primary cilia as expected
• at 6 months of age, most proximal (LTA-labeled) tubules in mutants are not ciliated, in contrast to wild-type controls
• at 6 months of age, mice exhibit multiple dilated tubules in the cortex

adipose tissue
• weight gain observed in homozygotes is due almost entirely to increase in fat mass
• white and brown adipocytes display hypertrophy

liver/biliary system
• mice show steatosis

reproductive system
• males have defective sperm formation in the testes (J:118221)

vision/eye
• mice have defective rhodopsin transport in the retina

endocrine/exocrine glands

cellular
• kidney epithelial cell apoptosis is markedly increased at 6 months
• at 6 months of age, increased levels of proliferation are detected in the kidney cortex, unlike in wild-type kidneys
• in most cross sections of dilated tubules, 20%-50% of the epithelial cells are Ki67-positive and lack primary cilia

Mouse Models of Human Disease
OMIM IDRef(s)
Alstrom Syndrome; ALMS 203800 J:118221