Chd8 Mutation Leads to Autistic-like Behaviors and Impaired Striatal Circuits.

@article{Platt2017Chd8ML,
  title={Chd8 Mutation Leads to Autistic-like Behaviors and Impaired Striatal Circuits.},
  author={Randall J Platt and Yang Zhou and Ian M. Slaymaker and Ashwin S Shetty and Niels R Weisbach and Jin-ah Kim and Jitendra Sharma and Mitul B. Desai and Sabina Sood and Hannah R. Kempton and Gerald R Crabtree and Guoping Feng and Feng Zhang},
  journal={Cell reports},
  year={2017},
  volume={19 2},
  pages={335-350}
}
Autism spectrum disorder (ASD) is a heterogeneous disease, but genetically defined models can provide an entry point to studying the molecular underpinnings of this disorder. We generated germline mutant mice with loss-of-function mutations in Chd8, a de novo mutation strongly associated with ASD, and demonstrate that these mice display hallmark ASD behaviors, macrocephaly, and craniofacial abnormalities similar to patient phenotypes. Chd8+/- mice display a broad, brain-region-specific… CONTINUE READING