Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

The role of SHANK3 in autism spectrum disorders  

Disruptions in the SHANK3 gene have been shown to result in autism. Joseph Buxbaum and his colleagues have created a mouse model with a similar disruption in SHANK3. The researchers plan to use this model to test their hypothesis that interfering with the expression of SHANK3 disrupts the connections between neurons, leading to overall developmental delays that ultimately result in autism. A team of five laboratories will use the mouse model to study autism from a variety of perspectives. Buxbaum and his laboratory plan to study the regulation and biochemical properties of SHANK3. Patrick Hof plans to look at changes in the morphology and distribution of neurotransmitter receptors in neurons brought on by disrupting SHANK3. Qiang Zhou aims to record electrical currents from the mouse neurons, a measure of their function, and investigate whether neuronal communication is abnormal in the mice. Finally, Jacqueline Crawley at the National Institute of Mental Health plans to evaluate the ability of the mice to learn and to interact socially, behaviors that are analogous to those altered in people with autism. The researchers hope this multi-pronged approach will provide a well-rounded understanding of the role of SHANK3 — and neurotransmitter biology in general — in the development of autism. Project Status


Funder Simons Foundation
Fiscal Year Funding $360,000.00
Project Number 94982
Principal Investigator Buxbaum, Joseph
Received ARRA Funding? No
Strategic Plan Question Question 4: Which Treatments And Interventions Will Help? (Interventions)
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 4SB. Standardize and validate at least 20 model systems (e.g., cellular and/or animal) that replicate features of ASD and will allow identification of specific molecular targets or neural circuits amenable to existing or new interventions by 2012. IACC Recommended Budget: $75,000,000 over 5 years.
Federal or Private? Private
Institution Mount Sinai School of Medicine
State/Country New York
Web Link 1 The role of SHANK3 in autism spectrum disorders (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects The role of SHANK3 in autism spectrum disorders | $360,000.00 | 2010 | 94982
The role of SHANK3 in autism spectrum disorders | $180,000.00 | 2011 | 94982
The role of SHANK3 in autism spectrum disorders | $0.00 | 2012 | 94982
The role of Shank3 in autism spectrum disorders | $360,000.00 | 2008 | Project number unavailable