Project Detail
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Office of Autism Research Coordination (OARC) logo

Mouse models of human autism spectrum disorders: Gene targeting in specific brain regions  

Autism spectrum disorders represent a broad range of developmental brain disorders that are characterized by impaired communication and social interaction. They are frequently accompanied by restricted and repetitive behaviors. Many theories on the causes of autism have been proposed, but the molecular and cellular malfunctions in the brain that underlie the disorder remain an enigma. Luis Parada and his colleagues at The University of Texas Southwestern Medical Center have generated mouse models by mutating particular genes linked to the disorder in people. In one such model, the researchers deleted the PTEN gene in a subset of neurons in the cortex and hippocampus of the brain. The altered mice display deficits in social behavior tests, and show decreased learning, exaggerated reactions to sensory stimuli, anxiety-like behaviors and sporadic seizures, all of which are seen in people with autism. The brains of the mice also have structural abnormalities, including enlarged neurons, which are caused by the cells harboring the PTEN mutation and which could be the root of the behavior deficits. Parada and his colleagues plan to determine whether other genes in the PTEN signaling pathway also have a role in autism. They also aim to investigate the role of PTEN and other genes of interest in specific cell populations and anatomic regions of the brain, to try to narrow down the regions involved in these behavioral disorders. The mouse models will allow the researchers to disrupt autism-linked genes in specific regions of the brain and look for resulting changes in behavior and brain morphology — studies that could not be carried out in people. The researchers hope this approach will provide new insights into the molecular, physiological and neuroanatomical underpinnings of autism. Project Status


Funder Simons Foundation
Fiscal Year Funding $400,000.00
Current Award Period 2009-2012
Project Number 137078
Principal Investigator Parada, Luis
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Subcategory Molecular Pathways
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.
Federal or Private? Private
Institution University of Texas Southwestern Medical Center
State/Country Texas
Web Link 1 Mouse models of human autism spectrum disorders: Gene targeting in specific brain regions (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Mouse models of human autism spectrum disorders: Gene targeting in specific brain regions | $100,000.00 | 2009 | 137078