Phenotypes Associated with This Genotype

Genotype
MGI:3841484

• Allelic Composition: Ptprc^tm1Weis/Ptprc⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

mortality/aging

premature death ( J:66501 )

• mice die prematurely from multiple pathologies starting as early as 15 weeks of age

• 25% of mutant mice have died by 50 weeks of age compared to none in the wild-type control group

immune system

increased IgG2a level ( J:66501 )

• there is a 12-fold increase in IgG2a levels over controls in 16 week old mice

increased susceptibility to autoimmune disorder ( J:66501 )

• autoimmune lupus nephritis with autoantibody production leading to renal failure

increased anti-double stranded DNA antibody level ( J:66501 )

• 25% of heterozygous mice express auto-antibodies as early as 18 weeks of age

renal/urinary system

increased urine protein level ( J:66501 )

• proteinura greater than 30 mg/dl is observed at 6 weeks of age

• 33% of mice exhibit abnormal proteinura by 26 weeks of age

homeostasis/metabolism

increased urine protein level ( J:66501 )

• proteinura greater than 30 mg/dl is observed at 6 weeks of age

• 33% of mice exhibit abnormal proteinura by 26 weeks of age

hematopoietic system

increased IgG2a level ( J:66501 )

• there is a 12-fold increase in IgG2a levels over controls in 16 week old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
systemic lupus erythematosus		DOID:9074	OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420	J:66501