Tnnt2^tm2.1Feah
Targeted Allele Detail

Summary

• Symbol: Tnnt2^tm2.1Feah
• Name: troponin T2, cardiac; targeted mutation 2.1, Ferhaan Ahmad
• MGI ID: MGI:5910771
• Synonyms: Tnnt2^R141W
• Gene: Tnnt2 Location: Chr1:135764092-135779998 bp, + strand Genetic Position: Chr1, 59.32 cM
• Alliance: Tnnt2^tm2.1Feah page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:243725
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The autosomal dominant Arg141Trp (R141W) mutation found in a family with dilated cardiomyopathy was introduced into exon 9 followed by a floxed neo/zeo cassette via homologous recombination. The neo/zeo cassette was removed via cre-mediated recombination. Reverse transcription-PCR and sequencing of total cardiac RNA confirmed expression of mutant mRNA. (J:243725)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Tnnt2 Mutation: 52 strains or lines available

References

• Original: J:243725 Ramratnam M, et al., Gene-Targeted Mice with the Human Troponin T R141W Mutation Develop Dilated Cardiomyopathy with Calcium Desensitization. PLoS One. 2016;11(12):e0167681
• All: 2 reference(s)