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Allele : Scn5a<tm1.1Iba> sodium channel, voltage-gated, type V, alpha; targeted mutation 1.1, Isabelle Baro

Primary Identifier  MGI:6415584 Allele Type  Targeted
Attribute String  Not Specified Gene  Scn5a
Transmission  Germline Strain of Origin  129/Sv
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 26 was replaced with one containing a deletion of residues QKP 1510-1512 (CAGAAGCCC). In addition, an FRT-flanked neomycin resistance cassette in opposite-orientation was inserted 148 bp upstream of exon 26. Flp-mediated recombination removed the selection cassette resulting in an allele with deletion of the QKP amino acids. This deletion is equivalent to the human QKP1507-1509 deletion in patients with Long QT syndrome.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • Scn5a<deltaQKP>,
  • Scn5a<deltaQKP>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories