Article
Heterogeneity of genetic modifiers ensures normal cardiac development.
Circulation - 23 Mar 2010
Winston Julia B, Erlich Jonathan M, Green Courtney A, Aluko Ashley, Kaiser Kristine A, Takematsu Mai, Barlow Robert S, Sureka Ashish O, LaPage Martin J, Janss Luc L, Jay Patrick Y
Abstract excerpt
BACKGROUND: Mutations of the transcription factor Nkx2-5 cause pleiotropic heart defects with incomplete penetrance. This variability suggests that additional factors can affect or prevent the mutant phenotype. We assess here the role of genetic modifiers and their interactions. METHODS AND RESULTS: Heterozygous Nkx2-5 knockout mice in the inbred strain background C57Bl/6 frequently have atrial and ventricular...
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