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Cacna1atm2.1Kewa
Targeted Allele Detail
Nomenclature
Symbol: Cacna1atm2.1Kewa
Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; targeted mutation 2.1, Kei Watase
MGI ID: MGI:5467732
Synonyms: MPI-118Q
Gene: Cacna1a  Location: Chr8:84388440-84640246 bp, + strand  Genetic Position: Chr8, 40.95 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:190729
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted
Mutation:    Insertion
 
Mutation detailsA floxed neo cassette was inserted upstream of exon 46 and exon 47 was replaced with a modified human exon 47 containing 114 CAG repeats multiply interrupted by 4 CAA units. A splice site mutation was inserted flanking the repeat region preventing production of the MPc and MPII isoforms. Cre meditated recombination removed the floxed neo cassette. Quantitative RT-PCR detected similar levels of expression of transcript in the cerebellum of homozygous mutant and wild-type mice. Sequencing of cDNAs from cerebellar extracts confirmed the absence of the MPc and MPII isoforms in homozygous mice. (J:190729)
Phenotypes
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View phenotypes 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:190729 Unno T, et al., Development of Purkinje cell degeneration in a knockin mouse model reveals lysosomal involvement in the pathogenesis of SCA6. Proc Natl Acad Sci U S A. 2012 Oct 23;109(43):17693-8
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory