Phenotypes associated with this allele

• Allele Symbol: Kdelr1^m1Btlr
• Allele Name: mutation 1, Bruce Beutler
• Allele ID: MGI:4843278
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kdelr1^m1Btlr/Kdelr1^m1Btlr	C57BL/6J-Kdelr1^m1Btlr	MGI:5689996
cx2	Fas^lpr/Fas^lpr Kdelr1^m1Btlr/Kdelr1^m1Btlr	involves: C57BL/6J * MRL/Mp	MGI:5689998

Genotype
MGI:5689996

hm1

• Allelic Composition: Kdelr1^m1Btlr/Kdelr1^m1Btlr
• Genetic Background: C57BL/6J-Kdelr1^m1Btlr

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

immune system

immune system phenotype ( J:224970 )

N • mice exhibit normal numbers of NK cells

thymus hypoplasia ( J:158794 )

abnormal lymphocyte morphology ( J:224970 )

• increased frequencies of CD8+CD44^hi and CD4+CD44^hi T cells

abnormal T cell differentiation ( J:224970 )

• intrinsic and moderate impairment from the CD4+CD8+ stage onward

increased marginal zone B cell number ( J:224970 )

• mildly

decreased lymphocyte cell number ( J:224970 )

• lymphophenia

• targeted mutation of Bcl2l11 or overexpression of BCL2 does not restore T cell numbers

decreased B cell number ( J:224970 )

• in the spleen

decreased transitional stage T1 B cell number ( J:224970 )

• in the spleen

decreased transitional stage T2 B cell number ( J:224970 )

• in the spleen

decreased follicular B cell number ( J:224970 )

decreased CD4-positive, alpha-beta T cell number ( J:158794 , J:224970 )

• in the thymus and spleen (J:224970)

• greater in thymectomized mice (J:224970)

decreased CD8-positive, alpha-beta T cell number ( J:158794 , J:224970 )

• in the thymus and spleen (J:224970)

absent NK T cells ( J:224970 )

• almost absent in the spleen

abnormal response to infection ( J:224970 )

• mice infected with the Armstrong strain of lymphochoriomeningitis virus (LCMV) exhibit reduced CD8+ T cell production of inflammatory cytokine (IFNgamma and TNFalpha) compared with wild-type mice

• however, mice exhibit normal CD8+ T cell priming and antigen-specific CD8+ T cells expression of intracellular cytokines in response to ex vivo LCMV peptide stimulation

increased susceptibility to Riboviria infection ( J:224970 )

• all but one mouse (10 of 11) exhibits persistent LCMV infection compared with 4 of 13 wild-type mice

endocrine/exocrine glands

thymus hypoplasia ( J:158794 )

hematopoietic system

thymus hypoplasia ( J:158794 )

abnormal lymphocyte morphology ( J:224970 )

• increased frequencies of CD8+CD44^hi and CD4+CD44^hi T cells

abnormal T cell differentiation ( J:224970 )

• intrinsic and moderate impairment from the CD4+CD8+ stage onward

increased marginal zone B cell number ( J:224970 )

• mildly

decreased lymphocyte cell number ( J:224970 )

• lymphophenia

• targeted mutation of Bcl2l11 or overexpression of BCL2 does not restore T cell numbers

decreased B cell number ( J:224970 )

• in the spleen

decreased transitional stage T1 B cell number ( J:224970 )

• in the spleen

decreased transitional stage T2 B cell number ( J:224970 )

• in the spleen

decreased follicular B cell number ( J:224970 )

decreased CD4-positive, alpha-beta T cell number ( J:158794 , J:224970 )

• in the thymus and spleen (J:224970)

• greater in thymectomized mice (J:224970)

decreased CD8-positive, alpha-beta T cell number ( J:158794 , J:224970 )

• in the thymus and spleen (J:224970)

absent NK T cells ( J:224970 )

• almost absent in the spleen

Genotype
MGI:5689998

cx2

• Allelic Composition: Fas^lpr/Fas^lpr; Kdelr1^m1Btlr/Kdelr1^m1Btlr
• Genetic Background: involves: C57BL/6J * MRL/Mp

immune system

immune system phenotype ( J:224970 )

N • T cell numbers are restored compared to in Kdelr1^m1Btlr homozygotes