Integrated functional genomics and craniofacial morphogenesis within the FaceBase Consortium: Alk5 mutant

Congenital malformations in facial bones significantly impact the overall representation of the face. Establishing correlations between gene expression and morphogenesis of craniofacial structures may lead to new discoveries of molecular mechanisms of craniofacial development. Thus in the present investigation, we will generate gene expression profiles of facial bones at embryo stage 14.5 to establish their roles in regulating craniofacial development. To perform global gene expression profiling analysis of mandible and maxilla development and integrate these datasets with cell lineage and quantitative 3D dynamic imaging analyses. In collaboration with the ontology group within the FaceBase consortium, we will define anatomical landmarks and morphometric parameters of the developing mandible and maxilla. Wnt1cre;Alk5fl/+ mice were mated with Alk5fl/fl mice and pregnant females were sacrificed at embryonic day 14.5 (E14.5), with observance of a vaginal plug denoting E0. Mutant embryos were identified by the presence of cleft palate and calvarial defect. The mandible and maxilla were dissected away from mutant embryos and control litter mates, then each mandible and maxilla was divided into its distal and proximal ends.