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Cacna1atm1.1Ehess
Targeted Allele Detail
Nomenclature
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: Chr8:84338639-84640246 bp, + strand  Genetic Position: Chr8, 40.95 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:217557
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6
Mutation
description
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)
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 Cacna1a Mutation:  42 strains or lines available
References
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
04/06/2021
MGI 6.16
The Jackson Laboratory