A novel mouse model recapitulates features of the neurodevelopmental disorder 3p25.3 microdeletion syndrome

6qE3del/+ mice reliably recapitulate key features of 3p25.3 microdeletion syndrome, including congenital heart defects, craniofacial defects, skeletal anomalies, and subtle brain changes.

• Why it matters: Many neurodevelopmental disorders lack mouse models, limiting mechanistic study and treatment development for conditions like 3p25.3 microdeletion syndrome.
• What they did: The study created a novel 6qE3del/+ mouse line and also generated a Brpf1-based model to test whether Brpf1 heterozygous loss contributes to phenotypes.
• The result: Congenital heart and craniofacial defects in 6qE3del/+ mice may be partly attributable to heterozygous Brpf1 loss, supporting the idea that Brpf1 haploinsufficiency treatments could benefit the syndrome.

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