Atp1a3^tm1.1Tmklh
Targeted Allele Detail

Summary

• Symbol: Atp1a3^tm1.1Tmklh
• Name: ATPase, Na+/K+ transporting, alpha 3 polypeptide; targeted mutation 1.1, Karin Lykke-Hartmann
• MGI ID: MGI:6163502
• Synonyms: alpha3^D801Y, Atp1a3^tm1Klh
• Gene: Atp1a3 Location: Chr7:24677592-24705383 bp, - strand Genetic Position: Chr7, 13.73 cM
• Alliance: Atp1a3^tm1.1Tmklh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:254463
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 17 was replaced with a floxed neomycin resistance cassette and a modified exon 17 in which nucleotide substitution (G to T) results in the amino acid substitution of tyrosine for aspartic acid (D801Y). Cre-mediated recombination removed the selection cassette. (J:254463)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Atp1a3 Mutation: 68 strains or lines available

References

• Original: J:254463 Holm TH, et al., Cognitive deficits caused by a disease-mutation in the alpha3 Na(+)/K(+)-ATPase isoform. Sci Rep. 2016 Aug 23;6:31972
• All: 2 reference(s)