Phenotypes Associated with This Genotype

Genotype
MGI:2677979

• Allelic Composition: Slc3a1^pbl/Slc3a1^pbl
• Genetic Background: involves: C3HeB/FeJ * MRL/MpJ

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

adipose tissue

decreased total body fat amount ( J:85461 )

• reduced fat mass, more pronounced in males than in females

growth/size/body

decreased body weight ( J:85461 )

• 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

abnormal urine amino acid level ( J:85461 )

• increased urinary concentrations of arginine, lysine, and ornithine

• normal plasma amino acid levels

increased circulating cholesterol level ( J:85461 )

increased circulating LDL cholesterol level ( J:85461 )

crystalluria ( J:85461 )

• hexagonal crystals in the urine; crystalluria

immune system

kidney inflammation ( J:85461 )

• focal interstitial inflammation

renal/urinary system

abnormal urine amino acid level ( J:85461 )

• increased urinary concentrations of arginine, lysine, and ornithine

• normal plasma amino acid levels

crystalluria ( J:85461 )

• hexagonal crystals in the urine; crystalluria

kidney inflammation ( J:85461 )

• focal interstitial inflammation

abnormal kidney morphology ( J:85461 )

• abnormalities secondary to urolithiasis

• uni- or bilateral dilation of the pelvis and an atrophy of the medulla and cortex

abnormal kidney cortex morphology ( J:85461 )

• atrophy of the cortex

abnormal renal glomerulus morphology ( J:85461 )

• dilated and containing flocculent, eosinophilic material

• compressed capillary loops

• prismatic epithelia was flattened and the underlying basal lamina was thickened

decreased kidney weight ( J:85461 )

• kidney weights were reduced by 50% to 66% those of wild-type

dilated renal tubule ( J:85461 )

• dilated and containing flocculent, eosinophilic material

• flattened tubular epithelia

urolithiasis ( J:85461 )

• cystine calculi detected in the kidneys and bladders of all males and 23% of females

skeleton

decreased bone mineral density ( J:85461 )

• more pronounced in males than in females

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystinuria		DOID:9266	OMIM:220100	J:85461