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Atp1a3Myk
Chemically induced Allele Detail
Nomenclature
Symbol: Atp1a3Myk
Name: ATPase, Na+/K+ transporting, alpha 3 polypeptide; Myshkin
MGI ID: MGI:4356167
Gene: Atp1a3  Location: Chr7:24978167-25005958 bp, - strand  Genetic Position: Chr7, 13.73 cM
Mutation
origin
Strain of Origin:  129S1/SvImJ
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Nucleotide substitutions
 
Mutation detailsENU mutatgenesis induced T to A transversions at nucleotide 328 and 2562 that result in amino acid substitutions of glutamic acid for aspartic acid at position 65 (D65E) and asparagine for isoleucine at position 810 (I810N). In vitro experiments confirm that the I810N mutation impairs enzymatic function while D65E does not. (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 Structures Affected by this Mutation: 4 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Atp1a3 Mutation:  34 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:  7 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
12/03/2019
MGI 6.14
The Jackson Laboratory