Cacna1s^tm1.1Slh
Targeted Allele Detail

Summary

• Symbol: Cacna1s^tm1.1Slh
• Name: calcium channel, voltage-dependent, L type, alpha 1S subunit; targeted mutation 1.1, Susan L Hamilton
• MGI ID: MGI:6887473
• Synonyms: CaV1.1 E1014K, EK
• Gene: Cacna1s Location: Chr1:135980549-136047268 bp, + strand Genetic Position: Chr1, 59.55 cM, cytoband F
• Alliance: Cacna1s^tm1.1Slh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:321585
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Single point mutation
• Mutation details: Glutamic acid codon 1014 (GAG) in exon 24 was changed to a lysine codon (AAG)(p.E1014K). The loxP site flanked neomycin resistance gene cassette that was inserted into intron 23 was removed through subsequent cre-mediated recombination. The mutation affects the Ca²⁺ permeability of the Ca²⁺ channel formed by Cacna1s. (J:321585)

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 Cacna1s Mutation: 117 strains or lines available

References

• Original: J:321585 Lee CS, et al., Ca(2+) permeation and/or binding to CaV1.1 fine-tunes skeletal muscle Ca(2+) signaling to sustain muscle function. Skelet Muscle. 2015;5:4
• All: 2 reference(s)