Phenotypes associated with this allele

• Allele Symbol: H2-DMa^tm1Liz
• Allele Name: targeted mutation 1, Elizabeth K Bikoff
• Allele ID: MGI:3688433
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	H2-DMa^tm1Liz/H2-DMa^tm1Liz	involves: BALB/cJ	MGI:3689000
cx2	Cd74^tm1Liz/Cd74^tm1Liz H2-DMa^tm1Liz/H2-DMa^tm1Liz	involves: 129S/SvEv * BALB/c	MGI:3689121

Genotype
MGI:3689000

hm1

• Allelic Composition: H2-DMa^tm1Liz/H2-DMa^tm1Liz
• Genetic Background: involves: BALB/cJ

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

hematopoietic system

abnormal CD4-positive, alpha beta T cell morphology ( J:113714 )

• in contrast to invariant chain deficient and H2-Dma-deficient mice expressing the H-2^b haplotype, H2-Dma mutants expressing the H-2^d haplotype show near normal numbers of mature CD4+ T cells in the periphery

• T cells carrying Vbeta (VB) segments (VB3, 5, 11 and 12) are well represented whereas they are completely eliminated in wild-type BALB/c controls, suggesting a role during presentation of endogenous superantigens

immune system

abnormal CD4-positive, alpha beta T cell morphology ( J:113714 )

• in contrast to invariant chain deficient and H2-Dma-deficient mice expressing the H-2^b haplotype, H2-Dma mutants expressing the H-2^d haplotype show near normal numbers of mature CD4+ T cells in the periphery

• T cells carrying Vbeta (VB) segments (VB3, 5, 11 and 12) are well represented whereas they are completely eliminated in wild-type BALB/c controls, suggesting a role during presentation of endogenous superantigens

abnormal professional antigen presenting cell physiology ( J:111565 , J:113714 )

• splenocytes gain reactivity to HEL_46-61 which binds preferentially to A^k-haplotype cells in wild-type mice (J:111565)

• E^k binding activities are enhanced also (J:111565)

• spleen cells display reduced binding activities in presence of hemaglutinin_126-138 and ovalbumin_323-339 (J:113714)

• unexpectedly, splenocytes show greater binding capabilities in presence of some E^d-specific peptides than wild-type cells (J:113714)

abnormal antigen presentation via MHC class II ( J:113714 )

• mutant spleen cells show defective presentation of intact protein antigens to A^drestricted T cell clones while in wild-type, responses to processed peptides are enhanced compared to wild-type

• A^drestricted T cells display complete loss of functional activity when challenged with endogenously process beta 2 microglobulin (B2m) epitopes in presence of mutant splenocytes

defective assembly of class II molecules ( J:113714 )

• mice do not display presence of mature compact dimers and SDS-unstable complexes are formed indicating that selection of tightly bound self-peptides is disrupted compared to wild-type

Genotype
MGI:3689121

cx2

• Allelic Composition: Cd74^tm1Liz/Cd74^tm1Liz; H2-DMa^tm1Liz/H2-DMa^tm1Liz
• Genetic Background: involves: 129S/SvEv * BALB/c

immune system

decreased CD4-positive, alpha-beta T cell number ( J:113714 )

• double mutants display significant defects in CD4+ T cell development; numbers of CD4+ T cells in the thymus and periphery are greatly reduced compared to wild-type

hematopoietic system

decreased CD4-positive, alpha-beta T cell number ( J:113714 )

• double mutants display significant defects in CD4+ T cell development; numbers of CD4+ T cells in the thymus and periphery are greatly reduced compared to wild-type