Atp1a2^tm1.1Gica
Targeted Allele Detail

Summary

• Symbol: Atp1a2^tm1.1Gica
• Name: ATPase, Na+/K+ transporting, alpha 2 polypeptide; targeted mutation 1.1, Giorgio Casari
• MGI ID: MGI:6729893
• Synonyms: Atp1a2^R887
• Gene: Atp1a2 Location: Chr1:172099276-172125631 bp, - strand Genetic Position: Chr1, 79.6 cM
• Alliance: Atp1a2^tm1.1Gica page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:307518
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: 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. (J:307518)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Atp1a2 Mutation: 61 strains or lines available

References

• Original: J:307518 Leo L, et al., Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2. PLoS Genet. 2011 Jun;7(6):e1002129
• All: 2 reference(s)