Ttn^tm1.1Isrd
Targeted Allele Detail

Summary

• Symbol: Ttn^tm1.1Isrd
• Name: titin; targeted mutation 1, Isabelle Richard
• MGI ID: MGI:4838322
• Synonyms: Ttn^tm2Gnt
• Gene: Ttn Location: Chr2:76534324-76812891 bp, - strand Genetic Position: Chr2, 45.13 cM, cytoband D
• Alliance: Ttn^tm1.1Isrd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:165576
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The sequence encoding a portion of the Mex 6 domain sequence GAA ATA ACA TGG was replaced by GTG AAA GAA AAA in order to lead to the modification of the four amino acids EITW to VKEK as occurs in the FINmaj mutation. In addition, a floxed neo cassette was inserted with the 3' region. The selection cassette was removed by Cre mediated recombination. (J:165576)

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 Ttn Mutation: 1457 strains or lines available

References

• Original: J:165576 Charton K, et al., Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies. Hum Mol Genet. 2010 Dec 1;19(23):4608-24
• All: 3 reference(s)