Grant: Project Grant

Inherited mutations in the PHF6 gene result in a rare childhood disorder that is associated with moderate to severe intellectual disability. In addition, acquired mutations in the PHF6 gene are associated with the development of several different types of leukemia. These studies indicate the importance of the PHF6 protein yet how mutations cause these different diseases remains largely unknown. We have recently generated mice that contain one of the same mutations in the Phf6 gene that is commonly found in both human conditions. Here, we propose to characterize the phenotype of these mice to gain additional insight into the function of the Phf6 gene during normal and pathological cognitive development.