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Ikbkbem1Macc
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Ikbkbem1Macc
Name: inhibitor of kappaB kinase beta; endonuclease-mediated mutation 1, Matthew C Cook
MGI ID: MGI:6444679
Synonyms: IkbkbV203I
Gene: Ikbkb  Location: Chr8:23149228-23196605 bp, - strand  Genetic Position: Chr8, 11.42 cM, cytoband A3-A4
Mutation
origin
Strain of Origin:  C57BL/6NCrl
Mutation
description
Allele Type:    Endonuclease-mediated (Constitutively active, Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsCRISPR/Cas9 technology generated a G to A transversion in codon 203 resulting in a valine to isoleucine substitution at amino acid 203 (p.V203I). This is a gain-of-function mutation and was identified in two patients with combined immune deficiency. (J:290616)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Ikbkb Mutation:  36 strains or lines available
References
Original:  J:290616 Cardinez C, et al., Gain-of-function IKBKB mutation causes human combined immune deficiency. J Exp Med. 2018 Nov 5;215(11):2715-2724
All:  1 reference(s)

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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last database update
06/14/2022
MGI 6.19
The Jackson Laboratory