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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Alms1L2131X
L2131
MGI:3699224
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Alms1L2131X/Alms1L2131X involves: C57BL/6 * NOD MGI:3700128


Genotype
MGI:3700128
hm1
Allelic
Composition
Alms1L2131X/Alms1L2131X
Genetic
Background
involves: C57BL/6 * NOD
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alms1L2131X mutation (0 available); any Alms1 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

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

growth/size/body
• weight gain observed in homozygotes is due almost entirely to increase in fat mass (J:118221)
• weight gain observed in homozygotes is due almost entirely to increase in fat mass (J:118221)
• mutants gain weight faster than controls between weeks 7 and 10 (J:118221)
• mutants gain weight faster than controls between weeks 7 and 10 (J:118221)

homeostasis/metabolism
• most older mice have normal glucose levels with hyperinsulinemia (J:118221)
• most older mice have normal glucose levels with hyperinsulinemia (J:118221)
• mice display elevated leptin levels (J:118221)
• mice display elevated leptin levels (J:118221)
• a mild proteinuria is detected at 6 months of age (J:118221)
• a mild proteinuria is detected at 6 months of age (J:118221)

renal/urinary system
• at 6 months of age, most proximal (LTA-labeled) tubule cells are not ciliated, in contrast to wild-type controls (J:118221)
• however, aquaporin-2-labeled collecting duct cells exhibit clear primary cilia as expected (J:118221)
• at 6 months of age, most proximal (LTA-labeled) tubule cells are not ciliated, in contrast to wild-type controls (J:118221)
• however, aquaporin-2-labeled collecting duct cells exhibit clear primary cilia as expected (J:118221)
• kidney epithelial cell apoptosis is markedly increased at 6 months (J:118221)
• kidney epithelial cell apoptosis is markedly increased at 6 months (J:118221)
• at 6 months of age, increased levels of proliferation are detected in the kidney cortex, unlike in wild-type kidneys (J:118221)
• in most cross sections of dilated tubules, 20%-50% of the epithelial cells are Ki67-positive and lack primary cilia (J:118221)
• at 6 months of age, increased levels of proliferation are detected in the kidney cortex, unlike in wild-type kidneys (J:118221)
• in most cross sections of dilated tubules, 20%-50% of the epithelial cells are Ki67-positive and lack primary cilia (J:118221)
• a mild proteinuria is detected at 6 months of age (J:118221)
• a mild proteinuria is detected at 6 months of age (J:118221)
• at 6 months of age, most proximal (LTA-labeled) tubules in mutants are not ciliated, in contrast to wild-type controls (J:118221)
• at 6 months of age, most proximal (LTA-labeled) tubules in mutants are not ciliated, in contrast to wild-type controls (J:118221)
• at 6 months of age, mice exhibit multiple dilated tubules in the cortex (J:118221)
• at 6 months of age, mice exhibit multiple dilated tubules in the cortex (J:118221)

adipose tissue
• weight gain observed in homozygotes is due almost entirely to increase in fat mass (J:118221)
• weight gain observed in homozygotes is due almost entirely to increase in fat mass (J:118221)
• white and brown adipocytes display hypertrophy (J:118221)
• white and brown adipocytes display hypertrophy (J:118221)

liver/biliary system
• mice show steatosis (J:118221)
• mice show steatosis (J:118221)

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

vision/eye
• mice have defective rhodopsin transport in the retina (J:118221)
• mice have defective rhodopsin transport in the retina (J:118221)

endocrine/exocrine glands

cellular
• at 6 months of age, most proximal (LTA-labeled) tubule cells are not ciliated, in contrast to wild-type controls (J:118221)
• however, aquaporin-2-labeled collecting duct cells exhibit clear primary cilia as expected (J:118221)
• at 6 months of age, most proximal (LTA-labeled) tubule cells are not ciliated, in contrast to wild-type controls (J:118221)
• however, aquaporin-2-labeled collecting duct cells exhibit clear primary cilia as expected (J:118221)
• kidney epithelial cell apoptosis is markedly increased at 6 months (J:118221)
• kidney epithelial cell apoptosis is markedly increased at 6 months (J:118221)
• at 6 months of age, increased levels of proliferation are detected in the kidney cortex, unlike in wild-type kidneys (J:118221)
• in most cross sections of dilated tubules, 20%-50% of the epithelial cells are Ki67-positive and lack primary cilia (J:118221)
• at 6 months of age, increased levels of proliferation are detected in the kidney cortex, unlike in wild-type kidneys (J:118221)
• in most cross sections of dilated tubules, 20%-50% of the epithelial cells are Ki67-positive and lack primary cilia (J:118221)

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





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory