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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

Shank3 mutant characterization in vivo

Principal Investigator

Principal Investigator

Kouser, Mehreen

Description

Description

Autism spectrum disorders (ASDs) are common, debilitating disorders affecting social interaction, communication, and repetitive behaviors. Deletion and other loss-of-function mutations of shank3, an intracellular binding partner of neuroligins, have been strongly implicated in human autism. We hypothesize that creating a human autism-associated genetic mutation of shank3 in mouse models will lead to autism-relevant behavioral abnormalities and functional changes in excitatory synaptic transmission. We have a global shank3 truncation mutation knockin mouse as a novel genetic model of autism. Our initial goal is to establish how shank3 mutation affects autism-relevant behaviors. Behavioral testing will be performed on littermate, sex-matched progeny from shank3 mutation heterozygous by wild-type matings. Three core domains of autism related behaviors will be tested. In addition, we will examine input/output curves, long term potentiation, long term depression, and short term plasticity in the hippocampus of shank3 WT and mutation het mice. Linking abnormal behavior to underlying neuronal circuit changes is difficult, but defining the effect of an autism-linked genetic mutation in vivo is a critical first-step toward understanding the pathophysiology of autism.

Funder

Funder

Autism Speaks

Fiscal Year Funding

Fiscal Year Funding

28000

Current Award Period

Current Award Period

2010-2012

Strategic Plan Question

Strategic Plan Question

Question 4: Which Treatments And Interventions Will Help?

Strategic Plan Objective

Strategic Plan Objective

Green dot: Objective has greater than or equal to the recommended funding. 4SB. Standardize and validate at least 20 model systems (e.g., cellular and/or animal) that replicate features of ASD and will allow identification of specific molecular targets or neural circuits amenable to existing or new interventions by 2012. IACC Recommended Budget: $75,000,000 over 5 years.

Project Link

Project Link

Shank3 mutant characterization in vivo (External web link)

Institution

Institution

University of Texas Southwestern Medical Center

State/Country

State/Country

Texas

Project Number

Project Number

7098

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Shank3 mutant characterization in vivo | 28000 | 2010 | 7098
Shank3 mutant characterization in vivo | 0 | 2012 | 7098

 
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