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

ABSTRACT:

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. We used standardized batteries to assess developmental milestones and adult behaviors, as well as magnetic resonance imaging and immunostaining of cortical projection neurons to capture early postnatal changes in brain development.

Results

Ddx3x^+/- females showed physical, sensory, and motor delays that evolved into behavioral ano

SUBMITTER: Boitnott A 

PROVIDER: S-EPMC8571043 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature