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Allele : Btk<em1Mnz> Bruton agammaglobulinemia tyrosine kinase; endonuclease-mediated mutation 1, Michel C Nussenzweig

Primary Identifier  MGI:7548531 Allele Type  Endonuclease-mediated
Gene  Btk Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
molecularNote  Cysteine codon 481 (TGC) in exon 15 was changed to serine (TCC) (p.C481S) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation renders the encoded peptide insensitive to B-cell proliferation and survival inhibitor ibrutinib.
  • mutations:
  • Single point mutation
  • synonyms:
  • BTK<C481S>,
  • BTK<C481S>
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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

2 Publication categories

Trail: Allele