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Allele : Atp1a2<tm1.1Gica> ATPase, Na+/K+ transporting, alpha 2 polypeptide; targeted mutation 1.1, Giorgio Casari

Primary Identifier  MGI:6729893 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Atp1a2
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  A T to C transition at position 2763 (position 2659 on Build GRCm39) resulting in a tryptophan to arginine substitution at amino acid 887 was inserted into exon 19. An FRT-flanked neomycin selection cassette was inserted downstream of exon 19 and removed via Flp-mediated recombination. This is a mutation associated with human familial hemiplegic migraine type 2. The mutant protein is barely detectable in the brain of homozygotes and reduced in heterozygotes.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Atp1a2<R887>,
  • Atp1a2<R887>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

6 Publication categories