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Phenotypes Associated with This Genotype
Genotype
MGI:2677399
Allelic
Composition
Slc7a9tm1Nune/Slc7a9tm1Nune
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc7a9tm1Nune mutation (0 available); any Slc7a9 mutation (11 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
Cystinuria 220100 J:85462


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
05/17/2016
MGI 6.03
The Jackson Laboratory