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Atp1a3tm1Ute
Targeted Allele Detail
Nomenclature
Symbol: Atp1a3tm1Ute
Name: ATPase, Na+/K+ transporting, alpha 3 polypeptide; targeted mutation 1, Ute Hochgeschwender
MGI ID: MGI:6162645
Synonyms: D801N, Mashl-, Mashlool
Gene: Atp1a3  Location: Chr7:24978167-25005958 bp, - strand  Genetic Position: Chr7, 13.73 cM
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 detailsA 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)
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Atp1a3 Mutation:  34 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:  1 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