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

An adult brain-specific mouse model of neuronal TSC inactivation  

Tuberous sclerosis complex (TSC) and fragile X syndrome (FXS) are known risk factors for autism, and recently, the gene products that are mutated in TSC and FXS have been shown to be involved in the regulation of protein synthesis, which is important for memory formation. Thus, it is possible that aberrant regulation of protein synthesis in brain cells may contribute to the development of autism. In an experimental mouse model in which the TSC gene has been genetically modified over the entire life span (including embryonic development), abnormalities in brain development are seen which are similar to those in people with TSC. This approach does not distinguish the critical period (i.e. pre- or post-natally) in which the abnormal TSC gene exerts its effect. The present study will use a TSC mouse model to examine the relationship between brain abnormalities and behavioral and cognitive impairments and will specifically address what happens when the abnormality in the TSC gene is induced only in the post-natal period (i.e., after birth and thereby bypassing any effects on brain development). Project Status


Funder Autism Speaks
Fiscal Year Funding $60,000.00
Project Number 2070
Principal Investigator Kelleher, Raymond
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Strategic Plan Objective New! Yellow dot: Objective has some degree of funding, but less than the recommended amount. 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 Massachusetts General Hospital
State/Country Massachusetts
Web Link 1 An adult brain-specific mouse model of neuronal TSC inactivation (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects An adult brain-specific mouse model of neuronal TSC inactivation | $60,000.00 | 2008 | 2070