Cacna1a^tm2.1Kewa
Targeted Allele Detail

Summary

• Symbol: Cacna1a^tm2.1Kewa
• 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: Chr8:85065268-85366875 bp, + strand Genetic Position: Chr8, 40.95 cM
• Alliance: Cacna1a^tm2.1Kewa page

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 (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: A floxed neo cassette was inserted upstream of exon 46 and exon 47 was replaced with a modified human exon 47 containing 114 CAG repeats interrupted by 4 CAA units in multiple places. 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)

Disease models

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

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: 118 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: 2 reference(s)