![]() ![]() In contrast, Mks1 avc 6 disrupted SHF Hh signaling and caused AVSDs without heterotaxy. Dnah11 avc 4 did not disrupt SHF Hh signaling and caused AVSDs only concurrently with heterotaxy, a left/right axis abnormality. Cilia are required for left/right body axis determination and second heart field (SHF) Hedgehog (Hh) signaling, and we find that cilia mutations affect these requirements differentially. In this study we identified deleterious non-synonymous mutations in two cilia genes, Dnah11 and Mks1, in independent N-ethyl-N-nitrosourea-induced mouse mutant lines with heritable recessive AVSDs by whole-exome sequencing. Atrioventricular septal defects (AVSDs) are a common severe form of congenital heart disease (CHD).
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