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Allele : Kcnt1<em8Frk> potassium channel, subfamily T, member 1; endonuclease-mediated mutation 8, Wayne N Frankel

Primary Identifier  MGI:6509315 Allele Type  Endonuclease-mediated
Attribute String  Not Specified Gene  Kcnt1
Strain of Origin  C57BL/6NJ Is Recombinase  false
Is Wild Type  false
molecularNote  Using sgRNAs and an ssODN template with CRISPR/cas9 technology, a T-to-C point mutation (c.2329T>C) was created to change tyrosine codon 777 (TAT) to a histidine codon (CAT) (p.Y777H). This mutation (formerly designated em1) mimics the p.Y796H gain-of-function mutation found in human autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) patients.
  • mutations:
  • Single point mutation
  • synonyms:
  • Kcnt1<em1Frk>,
  • Kcnt1<Y777H>,
  • Kcnt1<em1(Y777H)Frk>,
  • Kcnt1<m>,
  • Kcnt1<em1(Y777H)Frk>,
  • Kcnt1<em1Frk>,
  • Kcnt1<Y777H>,
  • Kcnt1<m>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

5 Publication categories

Trail: Allele