Ttn^tm2.1Mgot
Targeted Allele Detail

Summary

• Symbol: Ttn^tm2.1Mgot
• Name: titin; targeted mutation 2.1, Michael Gotthardt
• MGI ID: MGI:4946083
• Synonyms: N2B PEVK^-, PEVK^-
• Gene: Ttn Location: Chr2:76534324-76812891 bp, - strand Genetic Position: Chr2, 45.13 cM, cytoband D
• Alliance: Ttn^tm2.1Mgot page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:169969
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 219 through 225 were replaced with an FRT-flanked neo cassette. These exons encode the proline-glutamate-valine-lysine (PEVK) element. Flp-mediated recombination removed the neo cassette. The reduction of N2BA isoform relative to N2B isoforms was confirmed by western blot analysis. (J:169969)

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 Ttn Mutation: 1455 strains or lines available

References

• Original: J:169969 Granzier HL, et al., Truncation of titin's elastic PEVK region leads to cardiomyopathy with diastolic dysfunction. Circ Res. 2009 Sep 11;105(6):557-64
• All: 3 reference(s)