Cacna1a^tm3.1Kewa
Targeted Allele Detail

Summary

• Symbol: Cacna1a^tm3.1Kewa
• Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; targeted mutation 3.1, Kei Watase
• MGI ID: MGI:5927750
• Synonyms: Cacna1a^CtmKO
• Gene: Cacna1a Location: Chr8:85065268-85366875 bp, + strand Genetic Position: Chr8, 40.95 cM
• Alliance: Cacna1a^tm3.1Kewa page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:243499
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Modified isoform(s))
• Mutation: Insertion
• Mutation details: A splice acceptor site mutation was engineered at exon 47 to prevent the production of the MPI and MPII splice forms. Additionally, part of exon 47 was replaced with the equivalent fragment of cDNA from the human ortholog for genotyping purposes. A loxP site flanked neomycin resistance gene cassette was inserted into intron 45 and subsequently removed through cre-mediated recombination. RT-PCR experiments confirmed that isoforms MPI and MPII were absent and only isoform MPc was expressed. Similarly, immunoblots failed to detect the MPI isoform while the MPc isoform was overexpressed. (J:243499)

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: 116 strains or lines available

References

• Original: J:243499 Aikawa T, et al., Alternative splicing in the C-terminal tail of Cav2.1 is essential for preventing a neurological disease in mice. Hum Mol Genet. 2017 Aug 15;26(16):3094-3104
• All: 1 reference(s)