Phenotypes Associated with This Genotype

Genotype
MGI:3511170

• Allelic Composition: Cd40^tm1Kik/Cd40^tm1Kik; Traf3ip2^tm1.1Lix/Traf3ip2^tm1.1Lix
• Genetic Background: involves: 129 * 129P2/OlaHsd * BALB/c

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

hematopoietic system

increased transitional stage B cell number ( J:138560 )

• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes

increased follicular B cell number ( J:138560 )

• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes

increased marginal zone B cell number ( J:138560 )

• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes

enlarged spleen ( J:93923 )

• enlargement of the spleen is reduced compared to Traf3ip2 single homozygotes

• immunoglobulin levels are normal unlike in Traf3ip2 single homozygotes

abnormal B cell physiology ( J:138560 )

• Tnfsf13b (BAFF) stimulation results in enhanced B cell survival compared to single Cd40 mutants

immune system

immune system phenotype ( J:138560 )

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

increased transitional stage B cell number ( J:138560 )

• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes

increased follicular B cell number ( J:138560 )

• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes

increased marginal zone B cell number ( J:138560 )

• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes

enlarged spleen ( J:93923 )

• enlargement of the spleen is reduced compared to Traf3ip2 single homozygotes

• immunoglobulin levels are normal unlike in Traf3ip2 single homozygotes

abnormal B cell physiology ( J:138560 )

• Tnfsf13b (BAFF) stimulation results in enhanced B cell survival compared to single Cd40 mutants

enlarged lymph nodes ( J:93923 )

• 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