Mouse Genome Informatics
hm
    Slc7a9tm1Nune/Slc7a9tm1Nune
involves: 129P2/OlaHsd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
homeostasis/metabolism
• plasma cystine and lysine levels were ~30% lower than those of wild-type
• plasma levels of other amino acids did not statistically differ from those of wild-type
• increased urinary levels of cystine, lysine, arginine, ornithine and glutamine
• 82% showed hexagonal cystine crystals in the urine; crystalluria

renal/urinary system
• increased urinary levels of cystine, lysine, arginine, ornithine and glutamine
• 82% showed hexagonal cystine crystals in the urine; crystalluria
• interstitial inflammation
• tubular hyaline deposits, dilation, and necrosis
• tubular hyaline deposits
• increased weight
• 42% developed cystine calculi in the urinary system
• calculi developed within the first month of life and continued to increase in size over the lifespan of the mouse

immune system
• interstitial inflammation

Mouse Models of Human Disease
OMIM IDRef(s)
Cystinuria 220100 J:85462