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Allele : Scn1a<em1Dsf> sodium channel, voltage-gated, type I, alpha; endonuclease-mediated mutation 1, Dravet Syndrome Foundation

Primary Identifier  MGI:6342949 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Scn1a
Strain of Origin  129S1/SvImJ Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 genome editing is used to introduce an A>T point mutation at nucleotide 1837 (converting arginine (R) 613 to a STOP (X) codon) and a silent C>T mutation at position 1833 into exon 12. Mutations in Scn1a are associated with Dravet Syndrome.
  • mutations:
  • Insertion
  • synonyms:
  • SCN1A<R613X>,
  • SCN1A<R613X>
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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