Atp1a3^Myk
Chemically induced Allele Detail

Summary

• Symbol: Atp1a3^Myk
• Name: ATPase, Na+/K+ transporting, alpha 3 polypeptide; Myshkin
• MGI ID: MGI:4356167
• Gene: Atp1a3 Location: Chr7:24677592-24705338 bp, - strand Genetic Position: Chr7, 13.73 cM
• Alliance: Atp1a3^Myk page

Mutation origin

• Strain of Origin: 129S1/SvImJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Nucleotide substitutions
• Mutation details: ENU mutagenesis induced point mutations in exons 3 and 17 that encode amino acid substitutions D65E and I810N. The I810N mutation is responsible for the effects on enzyme neurological function. The D65E mutation affects a restriction site. (J:151948)
• Inheritance: Semidominant

Disease models

Expression

In Mice Carrying this Mutation:	20 assay results
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: 3 strains available Cell Lines: 0 lines available
• Carrying any Atp1a3 Mutation: 70 strains or lines available

References

• Original: J:151948 Clapcote SJ, et al., Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS. Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):14085-90
• All: 8 reference(s)