Generating a mouse model for a unique titin-associated cardiomyopathy phenotype

A mouse model has been generated for a cardiomyopathy-causing titin missense mutation. This model will help us to gain insight into disease mechanisms.

Publications linked to this award:

1. Ehsan, M., Jiang, H., L.Thomson, K. and Gehmlich, K. (2017). When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies. Journal of Muscle Research and Cell Motility, 38(3-4), pp.303-316.
2. Hastings R, de Villiers CP, Hooper C, Ormondroyd L, Pagnamenta A, Lise S, Salatino S, Knight SJ, Taylor JC, Thomson KL, Arnold L, Chatziefthimiou SD, Konarev PV, Wilmanns M, Ehler E, Ghisleni A, Gautel M, Blair E, Watkins H, Gehmlich K. Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2016 Oct;9(5):426-435. Epub 2016 Sep 13.