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Allele : Scn9a<em1Dhh> sodium channel, voltage-gated, type IX, alpha; endonuclease-mediated mutation 1, David H Hackos

Primary Identifier  MGI:8272191 Allele Type  Endonuclease-mediated
Gene  Scn9a Strain of Origin  C57BL/6N
Is Recombinase  false Is Wild Type  false
molecularNote  Tyrosine codon 1546 (TAC) was changed to serine (TCA) (p.Y1546S), tryptophan codon 1547 (TGG) to arginine (CGG) (p.W1547R) and valine codon 1550 (GTG) to leucine (CTG) (p.V1550L) using an sgRNA (targeting TGTGCTATACTGGATCAACG) and an ssODN template with CRISPR/Cas9 technology. The mutations, in the aryl-sulfonamide-binding site of the encoded protein, reduce SCN9A binding to its agonist GNE-3565 by more than 100-fold.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Scn9a YWV2SRL,
  • Scn9a YWV2SRL
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1 Feature

Genome

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0 Mutation Involves

Phenotype

Mouse alleles --> Genotypes/models

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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