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Targeted Allele Detail
Symbol: Cacna1atm1.1Ehess
Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; targeted mutation 1.1, Ellen Hess
MGI ID: MGI:5704132
Synonyms: EA2
Gene: Cacna1a  Location: Chr8:85065268-85366875 bp, + strand  Genetic Position: Chr8, 40.95 cM
Germline Transmission:  Earliest citation of germline transmission: J:217557
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6
Allele Type:    Targeted (Hypomorph)
Mutations:    Insertion, Single point mutation
Mutation detailsAn F1406C mutation (c.4486T>G) was introduced into exon 26 and a floxed neo cassette was inserted downstream of exon 26 via homologous recombination. Cre mediated recombination removed the neo cassette. Homozygous mice display a ~70% reduction in Cav2.1 current density in Purkinje cells. (J:217557)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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 Cacna1a Mutation:  85 strains or lines available
Original:  J:217557 Rose SJ, et al., The first knockin mouse model of episodic ataxia type 2. Exp Neurol. 2014 Nov;261:553-62
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
MGI 6.20
The Jackson Laboratory