Primary Identifier | MGI:6444679 | Allele Type | Endonuclease-mediated |
Attribute String | Constitutively active, Humanized sequence | Gene | Ikbkb |
Strain of Origin | C57BL/6NCrl | Is Recombinase | false |
Is Wild Type | false |
molecularNote | 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. |