The Role of Prickle 1 in determining the Craniofacial Morphology of Beetlejuice mice

As one of the most common congenital cranio-facial defects, cleft lip/palate (CL/P) occurs in approximately one per 750 live births in the United States. Cleft lip and palate may not be life threatening but affects functions like feeding, speech, hearing, respiration, facial and dentoalverloar development, just to name a few. These problems can cause emotional, psychosocial, and educational difficulties. Cleft lip and palate require extensive treatment that require a team approach of many specialists, which costs patients, insurances and the county billions of dollars each year. The etiology of cleft lip/palate (CL/P) is complex and is believed to be the result of both genetics and environmental inputs. Studies have been done that implicate certain craniofacial phenotypes and variation in the craniofacial morphology as an etiological factor for cleft lip in embryonic mice and in humans. Wide faces are hypothesized to increase susceptibility to CL in both mice and humans. There are many studies done supporting the link between genetic variation and specific craniofacial phenotypes. We know now that genetically similar individuals vary in the specific trait, which means genetics alone cannot be the source of dysmorphology like CL and CP. Both mutations and environmental effects can change the phenotype of an individual. Mutations can affect the size, position, and maturation of different developmental processes and prominences that are important for proper development and function of the face. The Beetlejuice (Bj) mutants have compressed faces, compared to their wild type littermates. We observed a ~ 50% rate of cleft palate in Bj mutants. The purpose of this study was to investigate if Prickle1 differentially affects the craniofacial morphology of Beetlejuice mice.