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Allele : Ikbkb<em1Macc> inhibitor of kappaB kinase beta; endonuclease-mediated mutation 1, Matthew C Cook

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.
  • mutations:
  • Single point mutation
  • synonyms:
  • Ikbkb<V203I>,
  • Ikbkb<V203I>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories

Trail: Allele