Disruption of Notch1 and Gata5 in mice leads to highly penetrant congenital aortic valve disease, displaying bicuspid aortic valve and progressive aortic valve stenosis.
The study establishes Notch1;Gata5 compound mutant mice as a novel model for congenital aortic valve disease, highlighting a critical genetic interaction for proper aortic valve development.
Here, we describe Notch1;Gata5 compound mutant mice as a novel mouse model of highly penetrant congenital aortic valve disease displaying bicuspid aortic valve and progressive aortic valve stenosis. Further, we find downregulation of smooth muscle genes in the neonatal aortic valves in Notch1;Gata5 compound mice consistent with an immature valve phenotype. Our findings demonstrate a novel genetic interaction between Notch1 and Gata5 in mice that is critical for proper aortic valve development. This novel model is an important tool to define dysregulated signaling pathways for congenital aortic valve stenosis and stenotic disease progression that can be investigated as therapeutic targets.
Yasuhara et al. (Thu,) conducted a other in Congenital aortic valve disease. Disruption of Notch1 and Gata5 was evaluated on Congenital aortic valve disease displaying bicuspid aortic valve and progressive aortic valve stenosis. Disruption of Notch1 and Gata5 in mice leads to highly penetrant congenital aortic valve disease, displaying bicuspid aortic valve and progressive aortic valve stenosis.