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Kcna1tm1Jmay
Targeted Allele Detail
Summary
Symbol: Kcna1tm1Jmay
Name: potassium voltage-gated channel, shaker-related subfamily, member 1; targeted mutation 1, James Maylie
MGI ID: MGI:2655686
Synonyms: Kcna1V408A
Gene: Kcna1  Location: Chr6:126617360-126623347 bp, - strand  Genetic Position: Chr6, 61.57 cM, cytoband F1-F3
Alliance: Kcna1tm1Jmay page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:82778
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA valine to alanine missense mutation in codon 408 (V408A, equivalent to that found in episodic ataxia type-1 (EA1) patients) was introduced via homologous recombination. A floxed neo cassette inserted in the 3' untranslated region was removed in vivo by cre mediated excision. (J:82778)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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 Kcna1 Mutation:  26 strains or lines available
References
Original:  J:82778 Herson PS, et al., A mouse model of episodic ataxia type-1. Nat Neurosci. 2003 Apr;6(4):378-83
All:  4 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
03/12/2024
MGI 6.23
The Jackson Laboratory