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Phenotypes Associated with This Genotype
Genotype
MGI:3696114
Allelic
Composition
C1galt1ptl1/C1galt1ptl1
Genetic
Background
C57BL/6-C1galt1ptl1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C1galt1ptl1 mutation (0 available); any C1galt1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Premature death and kidney disease in C1galt1ptl1/C1galt1ptl1 and C1galt1ptl1/C1galt1ptl1 Rag1tm1Bal/Rag1tm1Bal mice

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

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

homeostasis/metabolism
• serum has excessive levels of creatinine compared to controls( 200 mol/l vs 47 mmol/l)
• serum has excessive levels of urea compared to controls (169 mmol/l vs 9 mmol/l)
• mice have high levels of albumin in urine from early ages

renal/urinary system
• mice have high levels of albumin in urine from early ages
• kidneys show inflammatory infiltration
• affected foci show infiltrating inflammatory cells
• structure is 2-4 cell layers thick compared to 1 layer in wild-type
• kidneys display lesions affecting clusters of glomeruli and their proximal tubules
• kidneys show glomerular loss
• kidneys display cortical atrophy
• kidneys display lesions affecting clusters of glomeruli and their proximal tubules
• these show fatty degeneration and contain protein casts
• affected proximal tubules contain protein casts

hematopoietic system
• generation of platelets in mutants is slower than in wild-type
• homozygotes have platelet counts only 40% of those in wild-type
• volume is 10.0 fl for mutant platelets compared to 8.4 fl for wild-type

immune system
• generation of platelets in mutants is slower than in wild-type
• kidneys show inflammatory infiltration
• affected foci show infiltrating inflammatory cells


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/13/2026
MGI 6.24
The Jackson Laboratory