Phenotypes Associated with This Genotype

Genotype
MGI:2677399

• Allelic Composition: Slc7a9^tm1Nune/Slc7a9^tm1Nune
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

abnormal circulating amino acid level ( J:85462 )

• 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

aminoaciduria ( J:85462 )

• increased urinary levels of cystine, lysine, arginine, ornithine and glutamine

cystinuria ( J:85462 )

argininuria ( J:85462 )

hyperglutaminuria ( J:85462 )

lysinuria ( J:85462 )

ornithinuria ( J:85462 )

crystalluria ( J:85462 )

• 82% showed hexagonal cystine crystals in the urine; crystalluria

renal/urinary system

aminoaciduria ( J:85462 )

• increased urinary levels of cystine, lysine, arginine, ornithine and glutamine

cystinuria ( J:85462 )

argininuria ( J:85462 )

hyperglutaminuria ( J:85462 )

lysinuria ( J:85462 )

ornithinuria ( J:85462 )

crystalluria ( J:85462 )

• 82% showed hexagonal cystine crystals in the urine; crystalluria

tubulointerstitial nephritis ( J:85462 )

• interstitial inflammation

hydronephrosis ( J:85462 )

abnormal renal tubule morphology ( J:85462 )

• tubular hyaline deposits, dilation, and necrosis

dilated renal tubule ( J:85462 )

renal tubular necrosis ( J:85462 )

renal cast ( J:85462 )

• tubular hyaline deposits

increased urinary bladder weight ( J:85462 )

• increased weight

urolithiasis ( J:85462 )

• 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

tubulointerstitial nephritis ( J:85462 )

• interstitial inflammation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystinuria		DOID:9266	OMIM:220100	J:85462