Phenotypes Associated with This Genotype

Genotype
MGI:5707340

• Allelic Composition: Slc3a1^m1Crl/Slc3a1^m1Crl
• Genetic Background: 129S2/SvPasCrl

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

mortality/aging

premature death ( J:219017 )

• between 8 and 16 weeks of age compared with C57BL/6J mice

renal/urinary system

aminoaciduria ( J:219017 )

• mice exhibit increased urinary excretion of cysteine and dibasic amino acids (arginine, lysine and ornithine) compared with C57BL/6J mice

argininuria ( J:219017 )

lysinuria ( J:219017 )

ornithinuria ( J:219017 )

cystinuria ( J:219017 )

abnormal kidney morphology ( J:219017 )

• bilateral renal dilation in mice that die between 8 and 16 weeks of age

abnormal kidney cortex morphology ( J:219017 )

• focal increased cellularity in kidney cortex interstitium due to inflammatory cell infiltrate, including lymphocytes and macrophages

• however, interstitial fibrosis is not observed

hydronephrosis ( J:219017 )

• bilateral

• however, mice that survive until 16 weeks are not affected by hydronephrosis

ureter obstruction ( J:219017 )

cystolithiasis ( J:219017 )

urinary bladder obstruction ( J:219017 )

homeostasis/metabolism

increased circulating creatinine level ( J:219017 )

• in mice that survive until 16 weeks

aminoaciduria ( J:219017 )

• mice exhibit increased urinary excretion of cysteine and dibasic amino acids (arginine, lysine and ornithine) compared with C57BL/6J mice

argininuria ( J:219017 )

lysinuria ( J:219017 )

ornithinuria ( J:219017 )

cystinuria ( J:219017 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystinuria		DOID:9266	OMIM:220100	J:219017