Ttn^tm1Her
Targeted Allele Detail

Summary

• Symbol: Ttn^tm1Her
• Name: titin; targeted mutation 1, Joachim Herz
• MGI ID: MGI:2651645
• Gene: Ttn Location: Chr2:76534324-76812891 bp, - strand Genetic Position: Chr2, 45.13 cM, cytoband D
• Alliance: Ttn^tm1Her page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:81993
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: Exons 358 (MEx1) and 359 (MEx2) were left flanked by single loxP sites. A single frt site remained immediately upstream of the 3' loxP site, but transcription was reported to be unaffected by the presence of the frt and loxP sites. Recombination of the floxed region, which encodes the kinase domain, results in an in frame union of exons 357 and 360. (J:81993)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Ttn Mutation: 1457 strains or lines available

References

• Original: J:81993 Gotthardt M, et al., Conditional expression of mutant M-line titins results in cardiomyopathy with altered sarcomere structure. J Biol Chem. 2003 Feb 21;278(8):6059-65
• All: 6 reference(s)