Atp1a3<Myk> Chemically induced Allele Detail MGI Mouse (MGI:4356167)

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

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

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)

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