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

Neurobiology of mouse models for human chr 16p11.2 microdeletion and fragile X  

Autism is a pervasive developmental disorder characterized by impairment in social interaction and communication, and restricted repetitive and stereotyped behavior or interest. Fragile X syndrome and autism have overlapping clinical presentation, thus may share common biochemical and neurophysiological features. Human chromosome 16p11.2 microdeletion is the most common chromosome copy number variation (CNV) in autism. In this study, researchers will generate mice carrying a gene deletion to model human chr16p11.2 microdeletion phenotypes. We hypothesize that this gene deletion will cause synaptic pathophysiology that overlaps with Fragile X syndrome. This hypothesis will be tested in a battery of experiments that have been successfully conducted in Fragile X mice in our laboratory. Identifying the molecular commonalities between autism and Fragile X is vital in understanding the pathogenesis and providing effective therapies for both neurodevelopmental disorders. Project Status


Funder National Institutes of Health
Fiscal Year Funding $210,000.00
Current Award Period 2010-2012
Project Number 1R21MH090452-01
Principal Investigator Bear, Mark
Received ARRA Funding? No
Strategic Plan Question Question 4: Which Treatments And Interventions Will Help? (Treatments)
Subcategory Model Systems/Therapeutic Targets
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? Federal
Institution Massachusetts Institute of Technology
State/Country Massachusetts
Web Link 1 Neurobiology of mouse models for human chr 16p11.2 microdeletion and fragile X (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects N/A