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Phenotypes Associated with This Genotype
Genotype
MGI:3663104
Allelic
Composition
C4btm1Crr/C4btm1Crr
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C4btm1Crr mutation (1 available); any C4b mutation (102 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• at 10 months of age, spleens of C4b-deficient females are enlarged with an average weight of 368 mg compared to controls which are ~100mg; most females have spleens 2-fold larger by weight, and 1/3 have spleens 4 times the average control weight
• numbers are increased 4-fold over controls
• numbers are increased 2-fold over controls
• spontaneous germinal center formation is observed in C4b-deficient mice
• clearance of soluble immune complexes (IC) injected into mice is delayed initially in C4b-deficient mice, resulting in a 2- to 3-fold increase in circulating IC levels compared to C2-deficient or B6.129-Ighb controls
• levels remain high for at least 70 minutes
• by 5-6 months of age, >50% of C4b-deficient females (on Ighb haplotype homozygous background) have antinuclear antibody (ANA) levels comparable to Fas-deficient mice
• males have ANA levels higher (but not significant) than controls
• in 10-month old females, ANA levels as high as 1:30000 are present
• IgG autoantibody titers against dsDNA are increased over controls in females at 10 months of age
• IgG autoantibody titers against ss-DNA are increased over controls in females at 10 months of age
• ~50% of 10-month old female C4b-deficient mice show glomerulonephritis but no male do

renal/urinary system
• marked enlargement with hypercellularity is observed in the glomeruli of females at 10 months
• ~50% of 10-month old female C4b-deficient mice show glomerulonephritis but no male do
• many female mice display mesangial deposition of immune complexes (ICs) of IgG and C3

hematopoietic system
• at 10 months of age, spleens of C4b-deficient females are enlarged with an average weight of 368 mg compared to controls which are ~100mg; most females have spleens 2-fold larger by weight, and 1/3 have spleens 4 times the average control weight
• numbers are increased 4-fold over controls
• numbers are increased 2-fold over controls
• spontaneous germinal center formation is observed in C4b-deficient mice

growth/size/body
• at 10 months of age, spleens of C4b-deficient females are enlarged with an average weight of 368 mg compared to controls which are ~100mg; most females have spleens 2-fold larger by weight, and 1/3 have spleens 4 times the average control weight


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
04/16/2024
MGI 6.23
The Jackson Laboratory