Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome.

Background: Mutations in the X-linked gene DDX3X account for approximately 2% of intellectual disability in females, often comorbid with behavioral problems, motor deficits, and brain malformations. DDX3X encodes an RNA helicase with emerging functions in corticogenesis and synaptogenesis.

Methods: We generated a Ddx3x haploinsufficient mouse (Ddx3x females) with construct validity for DDX3X loss-of-function mutations.