Phenotypes associated with this allele

• Allele Symbol: Slc3a1^pbl
• Allele Name: pebbles
• Allele ID: MGI:2677291
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc3a1^pbl/Slc3a1^pbl	C3HeB/FeJ-Slc3a1^pbl	MGI:2677978
hm2	Slc3a1^pbl/Slc3a1^pbl	involves: C3HeB/FeJ * MRL/MpJ	MGI:2677979

Genotype
MGI:2677978

hm1

• Allelic Composition: Slc3a1^pbl/Slc3a1^pbl
• Genetic Background: C3HeB/FeJ-Slc3a1^pbl

• ♀: 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

aminoaciduria ( J:85461 )

• increased urinary concentrations of arginine, lysine, and ornithine

• normal plasma amino acid levels

argininuria ( J:85461 )

• on an C3HeB/FeJ inbred background, urine arginine levels were higher in females than in males

lysinuria ( J:85461 )

• on an C3HeB/FeJ inbred background, urine lysine levels were higher in females than in males

ornithinuria ( J:85461 )

• on an C3HeB/FeJ inbred background, urine ornithine levels were higher in females than in males

increased circulating cholesterol level ( J:85461 )

increased circulating LDL cholesterol level ( J:85461 )

uremia ( J:85461 )

increased circulating creatinine level ( J:85461 )

• significantly elevated

crystalluria ( J:85461 )

• hexagonal crystals in the urine

immune system

tubulointerstitial nephritis ( J:85461 )

• focal interstitial inflammation

renal/urinary system

aminoaciduria ( J:85461 )

• increased urinary concentrations of arginine, lysine, and ornithine

• normal plasma amino acid levels

argininuria ( J:85461 )

• on an C3HeB/FeJ inbred background, urine arginine levels were higher in females than in males

lysinuria ( J:85461 )

• on an C3HeB/FeJ inbred background, urine lysine levels were higher in females than in males

ornithinuria ( J:85461 )

• on an C3HeB/FeJ inbred background, urine ornithine levels were higher in females than in males

crystalluria ( J:85461 )

• hexagonal crystals in the urine

tubulointerstitial nephritis ( J:85461 )

• focal interstitial inflammation

abnormal kidney morphology ( J:85461 )

• abnormalities secondary to urolithiasis

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

kidney cortex atrophy ( J:85461 )

• atrophy of the cortex

kidney medulla atrophy ( J:85461 )

• atrophy of the medulla

hydronephrosis ( J:85461 )

• uni- or bilateral dilation of the pelvis

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

Genotype
MGI:2677979

hm2

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

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