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Allele : Kcnma1<em3Alme> potassium large conductance calcium-activated channel, subfamily M, alpha member 1; endonuclease-mediated mutation 3, Andrea Meredith
Primary Identifier  MGI:7384346 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Kcnma1
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 endonuclease-mediated genome editing was used with an sgRNA (targeting GGACCGGGATGATGTCAACG) and ssODN template (CTCAGAGAGAAGCATGAGTTTAGGTGGCAGGGTCTGGTGGCAGCAGGGGGCTCTTACTTcTGcAGAAAGACgATCTCgACGTTGACATCATCCCGGTCCTTGTGCAGAAAGTCCTTCAGG) to change histidine codon 444 (CAC) in exon 10 to glutamine (CAG) (ENSMUSP00000153247:p.H444Q, ENSMUST00000145596:c.1332C>G). This mutation is associated with paroxysmal non-kinesigenic dyskinesia (PKND3) with or without epileptic seizures in KCNMA1-linked channelopathy patients.
  • mutations:
  • Single point mutation
  • synonyms:
  • Kcnma1<H444Q>,
  • Kcnma1<H444Q>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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Trail: Allele




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