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Allele : Kcnma1<tm1.1Hyng> potassium large conductance calcium-activated channel, subfamily M, alpha member 1; targeted mutation 1.1, Huanghe Yang

Primary Identifier  MGI:7524752 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Kcnma1
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  An A to G change resulting in an aspartate to glycine substitution at amino acid 434 (p.D434G) was introduced in exon 10 and a loxP-flanked neomycin selection cassette was inserted downstream of the mutated exon 10. The neomycin selection cassette was removed via flp-mediated recombination. This is a variant identified in a large family of patients with generalized epilepsy and/or paroxysmal nonkinesigenic dyskinesia.
  • mutations:
  • Single point mutation
  • synonyms:
  • BK<D434G>,
  • BK<D434G>,
  • BK<DG>,
  • BK<DG>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele