Identification of novel genes regulating the development of the palate.

Background: The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro-computed tomography (micro-CT), the IMPC has created and publicly released three-dimensional image data sets of embryos from these lethal and subviable lines. In this study, we leveraged this data set to screen homozygous null mutants for anomalies in secondary palate development. We analyzed optical sections from 2987 embryos at embryonic days E15.5 and E18.5, representing 484 homozygous mutant lines.

Results and conclusions: Our analysis identified 44 novel genes implicated in palatogenesis. Gene set enrichment analysis highlighted biological processes and pathways relevant to palate development and uncovered 18 genes jointly regulating the development of the eye and the palate. These findings present a valuable resource for further research, offer novel insights into the molecular mechanisms underlying palatogenesis, and provide important context for understanding the etiology of rare human congenital disorders involving malformations of the palate and other organs.