Cacna1c^em1Gsp
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cacna1c^em1Gsp
• Name: calcium channel, voltage-dependent, L type, alpha 1C subunit; endonuclease-mediated mutation 1, Geoffrey S Pitt
• MGI ID: MGI:8265024
• Synonyms: Cacna1c^G406R, TS2
• Gene: Cacna1c Location: Chr6:118564201-119173851 bp, - strand Genetic Position: Chr6, 55.86 cM
• Alliance: Cacna1c^em1Gsp page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Modified isoform(s))
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to A change resulting in a glycine to arginine substitution at amino acid 406 (p.G406R) in exon 8. This is a mutation identified in Timothy syndrome patients that resides at the end of the S6 transmembrane segment of domain 1. The first two nucleotides of the G406 codon are the last two nucleotides of the mutually exclusive and alternatively spliced exons 8 or 8A. G406R decreases channel inactivation and thereby promotes increased calcium influx through the mutant channel. RT-qPCR indicates no exon-specific changes in heterozygous mice suggesting that the mutation does not affect expression from the mutant allele. (J:361120)

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(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 Cacna1c Mutation: 152 strains or lines available

References

• Original: J:361120 Matsui M, et al., Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome. Nat Commun. 2024 Oct 17;15(1):8980
• All: 1 reference(s)