Atp1a3^tm1Mika
Targeted Allele Detail

Summary

• Symbol: Atp1a3^tm1Mika
• Name: ATPase, Na+/K+ transporting, alpha 3 polypeptide; targeted mutation 1, Mohamad A Mikati
• MGI ID: MGI:6197036
• Synonyms: Atp1a3^E815K, Matb^-, Matoub
• Gene: Atp1a3 Location: Chr7:24677592-24705338 bp, - strand Genetic Position: Chr7, 13.73 cM
• Alliance: Atp1a3^tm1Mika page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:264408
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A glutamate to lysine missense mutation at amino acid 815 (E815K) was introduced with a neomycin selection cassette flanked by FRT sites. This is the second most common mutation in patients with alternating hemiplegia of children. (J:264408)

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: 70 strains or lines available

References

• Original: J:264408 Helseth AR, et al., Novel E815K knock-in mouse model of alternating hemiplegia of childhood. Neurobiol Dis. 2018 Jul 30;119:100-112
• All: 1 reference(s)