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Atp1a3Myk
Chemically induced Allele Detail
Summary
Symbol: Atp1a3Myk
Name: ATPase, Na+/K+ transporting, alpha 3 polypeptide; Myshkin
MGI ID: MGI:4356167
Gene: Atp1a3  Location: Chr7:24677592-24705383 bp, - strand  Genetic Position: Chr7, 13.73 cM
Alliance: Atp1a3Myk page
Mutation
origin
Strain of Origin:  129S1/SvImJ
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Nucleotide substitutions
 
Mutation detailsENU 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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: 2 strains available      Cell Lines: 0 lines available
Carrying any Atp1a3 Mutation:  68 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory