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Allele : Kcnq1<em1Ssto> potassium voltage-gated channel, subfamily Q, member 1; endonuclease-mediated mutation 1, Signe S Torekov

Primary Identifier  MGI:7256636 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Kcnq1
Strain of Origin  129 and C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated a GCA to GTT change resulting in an alanine to valine substitution at residue 340 (A340V). This mutation is common in long QT syndrome 1 patients.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • KCNQ1<A340V>,
  • KCNQ1<A340V>
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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