Cacna1a^tm1Itl
Targeted Allele Detail

Summary

• Symbol: Cacna1a^tm1Itl
• Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; targeted mutation 1, inGenious Targeting Laboratory
• MGI ID: MGI:6159927
• Synonyms: IM-AA
• Gene: Cacna1a Location: Chr8:85065268-85366875 bp, + strand Genetic Position: Chr8, 40.95 cM
• Alliance: Cacna1a^tm1Itl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:229926
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: An Ile-Met -> Ala-Ala mutation (ATCATG to GCCGCT) was introduced in exon 40 via homologous recombination. This mutation interferes with calcium sensor protein regulation of the channel but does not impair basal channel function. (J:229926)

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: 118 strains or lines available

References

• Original: J:229926 Nanou E, et al., Altered short-term synaptic plasticity and reduced muscle strength in mice with impaired regulation of presynaptic CaV2.1 Ca2+ channels. Proc Natl Acad Sci U S A. 2016 Jan 26;113(4):1068-73
• All: 4 reference(s)