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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Ikbkbem1Macc
endonuclease-mediated mutation 1, Matthew C Cook
MGI:6444679
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Ikbkbem1Macc/Ikbkbem1Macc involves: C57BL/6NCrl MGI:6444680
ht2
 		Ikbkbem1Macc/Ikbkb+ involves: C57BL/6NCrl MGI:6444681


Genotype
MGI:6444680
hm1
Allelic
Composition		 Ikbkbem1Macc/Ikbkbem1Macc
Genetic
Background		 involves: C57BL/6NCrl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ikbkbem1Macc mutation (0 available); any Ikbkb mutation (56 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
abnormal effector T cell number ( J:290616 )
• increase in the number of effector T cells
increased regulatory T cell number ( J:290616 )
• increase in circulating T reg cells and within the thymus
decreased T cell number ( J:290616 )
• T cells are reduced as a proportion of splenocytes
• reduction in absolute number of T cells within spleens
decreased CD4-positive, alpha-beta T cell number ( J:290616 )
• reduction in absolute numbers of CD4+ T cells
decreased CD8-positive, alpha-beta T cell number ( J:290616 )
• reduction in absolute numbers of CD8+ T cells
abnormal T cell activation ( J:290616 )
• increase in T cell activation

immune system
abnormal effector T cell number ( J:290616 )
• increase in the number of effector T cells
increased regulatory T cell number ( J:290616 )
• increase in circulating T reg cells and within the thymus
decreased T cell number ( J:290616 )
• T cells are reduced as a proportion of splenocytes
• reduction in absolute number of T cells within spleens
decreased CD4-positive, alpha-beta T cell number ( J:290616 )
• reduction in absolute numbers of CD4+ T cells
decreased CD8-positive, alpha-beta T cell number ( J:290616 )
• reduction in absolute numbers of CD8+ T cells
abnormal T cell activation ( J:290616 )
• increase in T cell activation

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
immunodeficiency 15A DOID:0111960 OMIM:618204
 J:290616




Genotype
MGI:6444681
ht2
Allelic
Composition		 Ikbkbem1Macc/Ikbkb+
Genetic
Background		 involves: C57BL/6NCrl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ikbkbem1Macc mutation (0 available); any Ikbkb mutation (56 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
abnormal effector T cell number ( J:290616 )
• increase in the number of effector T cells
increased regulatory T cell number ( J:290616 )
• small increase in circulating T reg cells and within the thymus
decreased T cell number ( J:290616 )
• T cells are reduced as a proportion of splenocytes
• reduction in absolute number of T cells within spleens
decreased CD4-positive, alpha-beta T cell number ( J:290616 )
• reduction in absolute numbers of CD4+ T cells
decreased CD8-positive, alpha-beta T cell number ( J:290616 )
• reduction in absolute numbers of CD8+ T cells
abnormal T cell activation ( J:290616 )
• increase in T cell activation

immune system
abnormal effector T cell number ( J:290616 )
• increase in the number of effector T cells
increased regulatory T cell number ( J:290616 )
• small increase in circulating T reg cells and within the thymus
decreased T cell number ( J:290616 )
• T cells are reduced as a proportion of splenocytes
• reduction in absolute number of T cells within spleens
decreased CD4-positive, alpha-beta T cell number ( J:290616 )
• reduction in absolute numbers of CD4+ T cells
decreased CD8-positive, alpha-beta T cell number ( J:290616 )
• reduction in absolute numbers of CD8+ T cells
abnormal T cell activation ( J:290616 )
• increase in T cell activation

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
immunodeficiency 15A DOID:0111960 OMIM:618204
 J:290616




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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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory