Student Oral Presentation Session 3Craniofacial anomalies are common features of Branchio-Oto-Renal (BOR) syndrome patients. Mutations in the Eya1 gene have been found in around half of the BOR patients, but the pathogenic mechanisms mediated by Eya1 in the craniofacial malformations remain unknown. In this study, we use Eya1 mutant mice as a disease model to study the abnormal early branchial arch (BA) development. Eya1-/- mutant embryos have hypoplastic BA2. The formation of branchial cleft was severely affected. Interestingly, Notch signaling was down-regulated in the mutant branchial ...postprin
