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Allele : Kcnt1<em1Pqt> potassium channel, subfamily T, member 1; endonuclease-mediated mutation 1, Paul Q Thomas

Primary Identifier  MGI:7442161 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Kcnt1
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated to C to T change at position c.2714 resulting in a proline to leucine substitution at amino acid 905 (p.P905L). This is equivalent to the p.P924L pathogenic variant found in two patients with epilepsy of infancy with migrating focal seizures (known as developmental and epileptic encephalopathy 14).
  • mutations:
  • Single point mutation
  • synonyms:
  • L,
  • L
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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