Phenotypes associated with this allele

• Allele Symbol: C1galt1^ptl1
• Allele Name: ptl1
• Allele ID: MGI:3693890
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	C1galt1^ptl1/C1galt1^ptl1	C57BL/6-C1galt1^ptl1	MGI:3696114
cx2	C1galt1^ptl1/C1galt1^ptl1 Rag1^tm1Bal/Rag1^tm1Bal	involves: 129S4/SvJae * C57BL/6	MGI:3723642

Genotype
MGI:3696114

hm1

• Allelic Composition: C1galt1^ptl1/C1galt1^ptl1
• Genetic Background: C57BL/6-C1galt1^ptl1

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

Premature death and kidney disease in C1galt1^ptl1/C1galt1^ptl1 and C1galt1^ptl1/C1galt1^ptl1 Rag1^tm1Bal/Rag1^tm1Bal mice

mortality/aging

premature death ( J:115272 )

• by 10 weeks of age, mice become ill; 90% are moribund by 200 days

growth/size/body

decreased body weight ( J:115272 )

• young adults (males - 15.4 grams, females - 14.4 grams) are smaller than controls (males - 24 grams, females - 18 grams)

homeostasis/metabolism

increased circulating creatinine level ( J:115272 )

• serum has excessive levels of creatinine compared to controls( 200 mol/l vs 47 mmol/l)

increased blood urea nitrogen level ( J:115272 )

• serum has excessive levels of urea compared to controls (169 mmol/l vs 9 mmol/l)

increased urine protein level ( J:115272 )

albuminuria ( J:115272 )

• mice have high levels of albumin in urine from early ages

renal/urinary system

increased urine protein level ( J:115272 )

albuminuria ( J:115272 )

• mice have high levels of albumin in urine from early ages

kidney inflammation ( J:115272 )

• kidneys show inflammatory infiltration

glomerulonephritis ( J:115272 )

• affected foci show infiltrating inflammatory cells

abnormal renal glomerular capsule morphology ( J:115272 )

• structure is 2-4 cell layers thick compared to 1 layer in wild-type

abnormal renal glomerulus morphology ( J:115272 )

• kidneys display lesions affecting clusters of glomeruli and their proximal tubules

decreased renal glomerulus number ( J:115272 )

• kidneys show glomerular loss

kidney cortex atrophy ( J:115272 )

• kidneys display cortical atrophy

abnormal proximal convoluted tubule morphology ( J:115272 )

• kidneys display lesions affecting clusters of glomeruli and their proximal tubules

• these show fatty degeneration and contain protein casts

renal cast ( J:115272 )

• affected proximal tubules contain protein casts

hematopoietic system

abnormal thrombopoiesis ( J:115272 )

• generation of platelets in mutants is slower than in wild-type

thrombocytopenia ( J:115272 )

• homozygotes have platelet counts only 40% of those in wild-type

increased mean platelet volume ( J:115272 )

• volume is 10.0 fl for mutant platelets compared to 8.4 fl for wild-type

immune system

abnormal thrombopoiesis ( J:115272 )

• generation of platelets in mutants is slower than in wild-type

kidney inflammation ( J:115272 )

• kidneys show inflammatory infiltration

glomerulonephritis ( J:115272 )

• affected foci show infiltrating inflammatory cells

Genotype
MGI:3723642

cx2

• Allelic Composition: C1galt1^ptl1/C1galt1^ptl1; Rag1^tm1Bal/Rag1^tm1Bal
• Genetic Background: involves: 129S4/SvJae * C57BL/6

Premature death and kidney disease in C1galt1^ptl1/C1galt1^ptl1 and C1galt1^ptl1/C1galt1^ptl1 Rag1^tm1Bal/Rag1^tm1Bal mice

mortality/aging

premature death ( J:115272 )

• mutants become ill, develop kidney disease and most are moribund by 200 days

renal/urinary system

increased urine protein level ( J:115272 )

kidney inflammation ( J:115272 )

• extensive inflammatory infiltration

abnormal kidney morphology ( J:115272 )

• renal lesions

decreased renal glomerulus number ( J:115272 )

• loss of glomeruli

abnormal renal tubule morphology ( J:115272 )

• tubular disorganization

hematopoietic system

thrombocytopenia ( J:115272 )

• thrombocytopenia

increased mean platelet volume ( J:115272 )

• high platelet volume

homeostasis/metabolism

increased urine protein level ( J:115272 )

immune system

kidney inflammation ( J:115272 )

• extensive inflammatory infiltration