Cacna1c^tm1Itl
Targeted Allele Detail

Summary

• Symbol: Cacna1c^tm1Itl
• Name: calcium channel, voltage-dependent, L type, alpha 1C subunit; targeted mutation 1, inGenious Targeting Laboratory
• MGI ID: MGI:4949646
• Synonyms: Cacna1c^tm1Igl, Cacna1c^tm1Wac, DCT^-
• Gene: Cacna1c Location: Chr6:118564201-119173851 bp, - strand Genetic Position: Chr6, 55.86 cM
• Alliance: Cacna1c^tm1Itl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:171162
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: This allele carries a premature stop codon, which results in the expression of C-terminally truncated protein (cutting 343 AAs; WT: 2139 AA, mutant: 1796 AA) at Gly-1796 with an extension of Leu-Ser-Lys-STOP, as well as an alternatively spliced, second variant ending at Gly-1796 with a LSATPERAREPR extension. The absence of the distal C-terminus peptide was confirmed by immunohistochemistry on heart sections. (J:171162)

Expression

In Mice Carrying this Mutation:	7 assay results
In Structures Affected by this Mutation:	3 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: 144 strains or lines available

References

• Original: J:171162 Fu Y, et al., Deletion of the Distal C Terminus of CaV1.2 Channels Leads to Loss of {beta}-Adrenergic Regulation and Heart Failure in Vivo. J Biol Chem. 2011 Apr 8;286(14):12617-26
• All: 2 reference(s)