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
NEW

2009

Funder National Institutes of Health
Fiscal Year Funding $193,125.00
Project Number 1R21MH085995-01
Principal Investigator Cheyette, Benjamin
Received ARRA Funding? Yes
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Strategic Plan Objective New! Green dot: Objective has greater than or equal to the recommended funding. 2SG. Support five studies that associate specific genotypes with functional or structural phenotypes, including behavioral and medical phenotypes (e.g., nonverbal individuals with ASD and those with cognitive impairments) by 2015. IACC Recommended Budget: $22,600,000 over 5 years.
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 | $231,750.00 | 2010 | 5R21MH085995-02