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Phenotypes Associated with This Genotype
Genotype
MGI:3511170
Allelic
Composition
Cd40tm1Kik/Cd40tm1Kik
Traf3ip2tm1.1Lix/Traf3ip2tm1.1Lix
Genetic
Background
involves: 129 * 129P2/OlaHsd * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cd40tm1Kik mutation (10 available); any Cd40 mutation (22 available)
Traf3ip2tm1.1Lix mutation (0 available); any Traf3ip2 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes
• enlargement of the spleen is reduced compared to Traf3ip2 single homozygotes
• immunoglobulin levels are normal unlike in Traf3ip2 single homozygotes
• Tnfsf13b (BAFF) stimulation results in enhanced B cell survival compared to single Cd40 mutants

immune system
N
• double mutants do not exhibit production of anti-SSA/Ro and anti-SSB/La autoantibodies in response to recombinant SSA/Ro and SSB/La antigens, as seen in Traf3ip2 single homozygotes
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes
• enlargement of the spleen is reduced compared to Traf3ip2 single homozygotes
• immunoglobulin levels are normal unlike in Traf3ip2 single homozygotes
• Tnfsf13b (BAFF) stimulation results in enhanced B cell survival compared to single Cd40 mutants
• enlargement of the lymph nodes is reduced compared to Traf3ip2 single homozygotes

Mouse Models of Human Disease
OMIM ID Ref(s)
NOT Immunodeficiency with Hyper-IgM, Type 1; HIGM1 308230 J:93923


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory