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Allele : Kcnq2<tm1.1Lvi> potassium voltage-gated channel, subfamily Q, member 2; targeted mutation 1.1, Laurent Villard

Primary Identifier  MGI:6488172 Allele Type  Targeted
Attribute String  Not Specified Gene  Kcnq2
Transmission  Germline Strain of Origin  129S2/SvPasOrlRj
Is Recombinase  false Is Wild Type  false
molecularNote  An ACC to ATG change resulting in a threonine to methionine substitution at amino acid 274 (T274M) was introduced in exon 3d. This is a recurrent pathogenic variant identified in several patients with developmental and epileptic encephalopathy. A loxP flanked neomycin resistance cassette was also inserted upstream of exon 3d and removed via cre-mediated recombination.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Kcnq2<Thr274Met>,
  • Kcnq2<Thr274Met>,
  • Kcnq2<T274M>,
  • Kcnq2<T274M>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

5 Publication categories

Trail: Allele