Mouse Genome Informatics
hm
    Slc3a1pbl/Slc3a1pbl
C3HeB/FeJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
adipose tissue
• reduced fat mass, more pronounced in males than in females

growth/size/body
• reduced fat mass, more pronounced in males than in females
• 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
• significantly elevated
• increased urinary concentrations of arginine, lysine, and ornithine
• on an C3HeB/FeJ inbred background, arginine, lysine, and ornithine levels were higher in females than in males
• normal plasma amino acid levels
• hexagonal crystals in the urine

immune system
• focal interstitial inflammation

renal/urinary system
• increased urinary concentrations of arginine, lysine, and ornithine
• on an C3HeB/FeJ inbred background, arginine, lysine, and ornithine levels were higher in females than in males
• normal plasma amino acid levels
• hexagonal crystals in the urine
• focal interstitial inflammation
• abnormalities secondary to urolithiasis
• uni- or bilateral dilation of the pelvis and an atrophy of the medulla and cortex
• compressed capillary loops
• dilated and containing flocculent, eosinophilic material
• prismatic epithelia was flattened and the underlying basal lamina was thickened
• atrophy of the cortex
• 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 IDRef(s)
Cystinuria 220100 J:85461