Ttn^tm1Brge
Targeted Allele Detail

Summary

• Symbol: Ttn^tm1Brge
• Name: titin; targeted mutation 1, Brenda Gerull
• MGI ID: MGI:4359790
• Gene: Ttn Location: Chr2:76534324-76812891 bp, - strand Genetic Position: Chr2, 45.13 cM, cytoband D
• Alliance: Ttn^tm1Brge page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:152736
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Insertion
• Mutation details: Exon 326 was replaced with the exon 326 from human patients with dilated cardiac myopathy due to a two base pairs (AT) insertion at nucleotide 43628. The insertion creates a premature STOP codon and is followed by an inserted neo cassette. (J:152736)

Disease models

Expression

In Mice Carrying this Mutation:	7 assay results
In Structures Affected by this Mutation:	6 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:152736 Gramlich M, et al., Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease. J Mol Cell Cardiol. 2009 Sep;47(3):352-8
• All: 5 reference(s)