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Atp1a3tm1Mika
Targeted Allele Detail
Nomenclature
Symbol: Atp1a3tm1Mika
Name: ATPase, Na+/K+ transporting, alpha 3 polypeptide; targeted mutation 1, Mohamad A Mikati
MGI ID: MGI:6197036
Synonyms: Atp1a3E815K, Matb-, Matoub
Gene: Atp1a3  Location: Chr7:24978167-25005958 bp, - strand  Genetic Position: Chr7, 13.73 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:264408
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Not Specified)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA glutamate to lysine missense mutation at amino acid 815 (E815K) was introduced with a neomycin selection cassette flanked by FRT sites. This is the second most common mutation in patients with alternating hemiplegia of children. (J:264408)
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: 2 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:264408 Helseth AR, et al., Novel E815K knock-in mouse model of alternating hemiplegia of childhood. Neurobiol Dis. 2018 Jul 30;119:100-112
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
02/11/2020
MGI 6.14
The Jackson Laboratory