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Phenotypes Associated with This Genotype
Genotype
MGI:2677979
Allelic
Composition
Slc3a1pbl/Slc3a1pbl
Genetic
Background
involves: C3HeB/FeJ * MRL/MpJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc3a1pbl mutation (0 available); any Slc3a1 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue
• reduced fat mass, more pronounced in males than in females

growth/size/body
• associated with decreased fat mass and bone mineral density
• inbred C3HeB/FeJ inbred males showed later onset and slower progression on a than males on a mixed background involving C3HeB/FeJ and MRL/MpJ
• female body weight did not significantly differ

homeostasis/metabolism
• increased urinary concentrations of arginine, lysine, and ornithine
• normal plasma amino acid levels
• hexagonal crystals in the urine; crystalluria

immune system
• focal interstitial inflammation

renal/urinary system
• increased urinary concentrations of arginine, lysine, and ornithine
• normal plasma amino acid levels
• hexagonal crystals in the urine; crystalluria
• focal interstitial inflammation
• abnormalities secondary to urolithiasis
• uni- or bilateral dilation of the pelvis and an atrophy of the medulla and cortex
• atrophy of the cortex
• dilated and containing flocculent, eosinophilic material
• compressed capillary loops
• prismatic epithelia was flattened and the underlying basal lamina was thickened
• kidney weights were reduced by 50% to 66% those of wild-type
• dilated and containing flocculent, eosinophilic material
• flattened tubular epithelia
• cystine calculi detected in the kidneys and bladders of all males and 23% of females

skeleton
• more pronounced in males than in females

Mouse Models of Human Disease
OMIM ID Ref(s)
Cystinuria 220100 J:85461


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory