Ikbkb^em1Macc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ikbkb^em1Macc
• Name: inhibitor of kappaB kinase beta; endonuclease-mediated mutation 1, Matthew C Cook
• MGI ID: MGI:6444679
• Synonyms: Ikbkb^V203I
• Gene: Ikbkb Location: Chr8:23149228-23196605 bp, - strand Genetic Position: Chr8, 11.42 cM, cytoband A3-A4
• Alliance: Ikbkb^em1Macc page

Mutation origin

• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Endonuclease-mediated (Constitutively active, Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/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)

Disease models

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: 56 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: 2 reference(s)