He Jiang, Charlotte Hooper, Matthew Kelly, Violetta Steeples, Jillian N Simon, Julia Beglov, Amar J Azad, Lisa Leinhos, Pauline Bennett, Elisabeth Ehler, Jacinta I Kalisch-Smith, Duncan B Sparrow, Roman Fischer, Raphael Heilig, Henrik Isackson, Mehroz Ehsan, Giannino Patone, Norbert Huebner, Benjamin Davies, Hugh Watkins, Katja Gehmlich
Titin truncating variants are a well-established cause of cardiomyopathy; however, the role of titin missense variants is less well understood. Here we describe the generation of a mouse model to investigate the underlying disease mechanism of a previously reported titin A178D missense variant identified in a family with non-compaction and dilated cardiomyopathy. Heterozygous and homozygous mice carrying the titin A178D missense variant were characterised in vivo by echocardiography. Heterozygous mice had no detectable phenotype at any time point investigated (up to 1 year)...
February 26, 2021: Basic Research in Cardiology