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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

Modeling Pitt-Hopkins Syndrome, an Autism Spectrum Disorder, in Transgenic Mice Harboring a Pathogenic Dominant Negative Mutation in TCF4

Principal Investigator

Principal Investigator

Thaxton, Courtney

Description

Description

Courtney L. Thaxton, Ph.D., University of North Carolina, Chapel Hill, studies Pitt-Hopkins Syndrome (PTHS), on the spectrum of autism disorder, that is caused by de novo mutation(s) or partial deletion(s) in a single copy of a gene called TCF4. She seeks to develop a new mouse model of TCF4 that better mimics human PTHS so she can study symptom onset function of TCF4 in the nervous system.

Funder

Funder

Brain & Behavior Research Foundation

Fiscal Year Funding

Fiscal Year Funding

0

Current Award Period

Current Award Period

2014-2016

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. 2SD. Launch three studies that target improved understanding of the underlying biological pathways of genetic conditions related to autism (e.g. Fragile X, Rett syndrome, tuberous sclerosis complex) and how these conditions inform risk assessment and individualized intervention by 2012. IACC Recommended Budget: $9,000,000 over 5 years.

Project Link

Project Link

No link available.

Institution

Institution

University of North Carolina

State/Country

State/Country

North Carolina

Project Number

Project Number

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Modeling Pitt-Hopkins Syndrome, an Autism Spectrum Disorder, in Transgenic Mice Harboring a Pathogenic Dominant Negative Mutation in TCF4 | 30000 | 2014 |
Modeling Pitt-Hopkins Syndrome, an Autism Spectrum Disorder, in Transgenic Mice Harboring a Pathogenic Dominant Negative Mutation in TCF4 | 0 | 2013 |

 
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