Atp1a3^tm1Ute
Targeted Allele Detail

Summary

• Symbol: Atp1a3^tm1Ute
• Name: ATPase, Na+/K+ transporting, alpha 3 polypeptide; targeted mutation 1, Ute Hochgeschwender
• MGI ID: MGI:6162645
• Synonyms: D801N, Mashl^-, Mashlool
• Gene: Atp1a3 Location: Chr7:24677592-24705338 bp, - strand Genetic Position: Chr7, 13.73 cM
• Alliance: Atp1a3^tm1Ute page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:262419
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Single point mutation
• Mutation details: A point mutation of G to A results in the amino acid substitution of asparigine for aspartic acid at position 801 (D801N). This mutation does not effect protein levels but reduces ATPase activity by 54-80%. An FRT-flanked neomycin resistance cassette was inserted. (J:262419)

Disease models

Expression

In Structures Affected by this Mutation:

3 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:262419 Hunanyan AS, et al., Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization. Epilepsia. 2015 Jan;56(1):82-93
• All: 2 reference(s)