Article
Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome.
Biological psychiatry - 1 Dec 2021
Boitnott Andrea, Garcia-Forn Marta, Ung Dévina C, Niblo Kristi, Mendonca Danielle, Park Yeaji, Flores Michael, Maxwell Sylvia, Ellegood Jacob, Qiu Lily R, Grice Dorothy E, Lerch Jason P, Rasin Mladen-Roko, Buxbaum Joseph D, Drapeau Elodie, De Rubeis Silvia
Abstract excerpt
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...
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