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

Autism-specific mutation in DACT1: Impact on brain development in a mouse model  

In previous studies, researchers identified a novel single nucleotide polymorphism (SNP), a variation in the DNA sequence, in the DACT1 gene locus in autism patients. The researchers hypothesize that this SNP, which tracks with the diagnosis of autism in an affected family, alters Dact1 protein function in developing neurons to cause the disease. A model system using a knock-out mouse and a cell line relevant to autism pathogenesis has been established to study the function of the Dact1 protein. In this study, these mouse and cell model systems will be used to assess whether the loss of this protein affects neural development and whether the autism-variant of the protein has different biochemical or functional properties than the typical, wild type protein. Examining the effects of the SNP in the DACT1 gene could further the understanding of the biological mechanisms that underlie autism. Project Status
ONGOING

2010

Funder National Institutes of Health
Fiscal Year Funding $231,750.00
Current Award Period 2009-2011
Project Number 5R21MH085995-02
Principal Investigator Cheyette, Benjamin
Received ARRA Funding? Yes
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Subcategory Molecular Pathways
Strategic Plan Objective 2O. Not specific to Question 2 objectives
Federal or Private? Federal
Institution University of California, San Francisco
State/Country California
Web Link 1 Autism-specific mutation in DACT1: Impact on brain development in a mouse model (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Autism-specific mutation in DACT1: Impact on brain development in a mouse model | $193,125.00 | 2009 | 1R21MH085995-01