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Allele : Atp1a3<tm1.1Mika> ATPase, Na+/K+ transporting, alpha 3 polypeptide; targeted mutation 1.1, Mohamad A Mikati

Primary Identifier  MGI:6856863 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Atp1a3
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
description  The version of this allele that contains the neomycin selection cassette, Atp1a3tm1Mika, has been analyzed.
molecularNote  A glutamate to lysine missense mutation at amino acid 815 (E815K) was introduced with a neomycin selection cassette flanked by FRT sites. Flp-mediated recombination removed the FRT-flanked neomycin cassette. This is the second most common mutation in patients with alternating hemiplegia of children.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Matoub,
  • Matb<->,
  • Matb<->,
  • Matoub,
  • Atp1a3<E815K>,
  • Atp1a3<E815K>
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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

3 Publication categories

Trail: Allele