Atp1a2^tm1.1Tmklh
Targeted Allele Detail

Summary

• Symbol: Atp1a2^tm1.1Tmklh
• Name: ATPase, Na+/K+ transporting, alpha 2 polypeptide; targeted mutation 1.1, Karin Lykke-Hartmann
• MGI ID: MGI:6187668
• Synonyms: alpha2^G301R
• Gene: Atp1a2 Location: Chr1:172099276-172125631 bp, - strand Genetic Position: Chr1, 79.6 cM
• Alliance: Atp1a2^tm1.1Tmklh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:259556
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The targeting construct introduced a G to A mutation in exon 8 that results in the amino acid substitution of arginine for glycine at position 301 (G301R). Cre-mediated recombination removed a neomycin resistance cassette inserted into intron 7. (J:259556)

Disease models

Expression

In Mice Carrying this Mutation:	26 assay results
In Structures Affected by this Mutation:	2 anatomical structure(s)

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:259556 Bottger P, et al., Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model. Sci Rep. 2016 Feb 25;6:22047
• All: 5 reference(s)