Tnnc1^tm1.1Jrpi
Targeted Allele Detail

Summary

• Symbol: Tnnc1^tm1.1Jrpi
• Name: troponin C, cardiac/slow skeletal; targeted mutation 1.1, Jose R Pinto
• MGI ID: MGI:6304486
• Synonyms: KI-TnC-A8V⁺
• Gene: Tnnc1 Location: Chr14:30930274-30933671 bp, + strand Genetic Position: Chr14, 19.09 cM
• Alliance: Tnnc1^tm1.1Jrpi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:274007
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: A substitution of alanine for valine (A8V) at position 8 was introduced in exon 1 in the N-helix and a loxP-flanked neomycin selection cassette was inserted in intron 1. Cre-mediated recombination removed the neo cassette. This a human hypertrophic cardiomyocyte-associated mutation. (J:274007)

Disease models

Expression

In Structures Affected by this Mutation:

9 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 Tnnc1 Mutation: 11 strains or lines available

References

• Original: J:274007 Martins AS, et al., In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene. Circ Cardiovasc Genet. 2015 Oct;8(5):653-664
• All: 5 reference(s)