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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

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

Principal Investigator

Principal Investigator

Cheyette, Benjamin

Description

Description

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.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

193125

Current Award Period

Current Award Period

na

Strategic Plan Question

Strategic Plan Question

Question 2: How Can I Understand What Is Happening?

Strategic Plan Objective

Strategic Plan Objective

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.

Project Link

Project Link

Autism-specific mutation in DACT1: Impact on brain development in a mouse model (External web link)

Institution

Institution

University of California, San Francisco

State/Country

State/Country

California

Project Number

Project Number

1R21MH085995-01

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

Yes

History/Related Projects

History/Related Projects

Autism-specific mutation in DACT1: Impact on brain development in a mouse model | 231750 | 2010 | 5R21MH085995-02

 
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