Tnnc1^tm1.1Svbt
Targeted Allele Detail

Summary

• Symbol: Tnnc1^tm1.1Svbt
• Name: troponin C, cardiac/slow skeletal; targeted mutation 1.1, Svetlana B Tikunova
• MGI ID: MGI:7580682
• Synonyms: D73N⁺
• Gene: Tnnc1 Location: Chr14:30930274-30933671 bp, + strand Genetic Position: Chr14, 19.09 cM
• Alliance: Tnnc1^tm1.1Svbt page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:289662
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Single point mutation
• Mutation details: Aspartic acid codon 73 (GAC) in exon 4 was changed to asparagine (AAC) (p.D73N) and a FRT site flanked neomycin resistance gene cassette was inserted into intron 4. The neo cassette was removed through subsequent Flp-mediated recombination. The mutation, in the second Ca<2+>-binding loop of the encoded peptide, desensitizes the peptide to Ca<2+>. (J:289662)

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: 12 strains or lines available

References

• Original: J:289662 McConnell BK, et al., Knock-in mice harboring a Ca(2+) desensitizing mutation in cardiac troponin C develop early onset dilated cardiomyopathy. Front Physiol. 2015;6:242
• All: 1 reference(s)