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Allele : Scn2a<em1Kea> sodium channel, voltage-gated, type II, alpha; endonuclease-mediated mutation 1, Jennifer Kearney

Primary Identifier  MGI:6390565 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Scn2a
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 editing was used to introduce a single nucleotide change AAA to GAA, resulting in substitution of glutamate for lysine at position 1422 (K1422E). This corresponds to the neurodevelopmental disorder-associated p.K1422E pathogenic variant in humans.
  • mutations:
  • Single point mutation
  • synonyms:
  • Scn2a<E>,
  • Scn2a<K1422E>,
  • Scn2a<K1422E>,
  • Scn2a<E>
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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

3 Publication categories

Trail: Allele