Ttn^tm2.1Hgra
Targeted Allele Detail

Summary

• Symbol: Ttn^tm2.1Hgra
• Name: titin; targeted mutation 2.1, Henk Granzier
• MGI ID: MGI:5662236
• Synonyms: Ttn^deltaIAjxn
• Gene: Ttn Location: Chr2:76534324-76812891 bp, - strand Genetic Position: Chr2, 45.13 cM, cytoband D
• Alliance: Ttn^tm2.1Hgra page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:216466
• Parent Cell Line: D1 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6J)F1

Mutation description

Allele Type: Targeted (Not Applicable) Mutations: Insertion, Intragenic deletion Mutation details: An 8027 bp region including exons 251-269 that encode the IA-junction were replaced with a floxed pgk-neo cassette via homologous recombination. Cre mediated recombination removed the neo cassette. A smaller (153 kDa) mutant protein is detected in cardiac tissue from heterozygous and homozygous mice. (J:216466)

Generation of the Ttn^tm2.1Hgra allele

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

Notes

Phenotypic Similarity to Human Syndrome: Heart Failure with Preserved Ejection Fraction (J:216466).

References

• Original: J:216466 Granzier HL, et al., Deleting titin's I-band/A-band junction reveals critical roles for titin in biomechanical sensing and cardiac function. Proc Natl Acad Sci U S A. 2014 Oct 7;111(40):14589-94
• All: 6 reference(s)