Ontology highlight
ABSTRACT:
SUBMITTER: Gramlich M
PROVIDER: S-EPMC2764556 | biostudies-other | 2009 Sep
REPOSITORIES: biostudies-other
Gramlich Michael M Michely Beate B Krohne Christian C Heuser Arnd A Erdmann Bettina B Klaassen Sabine S Hudson Bryan B Magarin Manuela M Kirchner Florian F Todiras Mihail M Granzier Henk H Labeit Siegfried S Thierfelder Ludwig L Gerull Brenda B
Journal of molecular and cellular cardiology 20090504 3
Mutations in a variety of myofibrillar genes cause dilated cardiomyopathy (DCM) in humans, usually with dominant inheritance and incomplete penetrance. Here, we sought to clarify the functional effects of the previously identified DCM-causing TTN 2-bp insertion mutation (c.43628insAT) and generated a titin knock-in mouse model mimicking the c.43628insAT allele. Mutant embryos homozygous for the Ttn knock-in mutation developed defects in sarcomere formation and consequently died before E9.5. Hete ...[more]