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

Shank3 mutant characterization in vivo  

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. Project Status


Funder Autism Speaks
Fiscal Year Funding $28,000.00
Current Award Period 2010-2012
Project Number 7098
Principal Investigator Kouser, Mehreen
Received ARRA Funding? No
Strategic Plan Question Question 4: Which Treatments And Interventions Will Help? (Treatments)
Subcategory Model Systems/Therapeutic Targets
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.
Federal or Private? Private
Institution University of Texas Southwestern Medical Center
State/Country Texas
Web Link 1 Shank3 mutant characterization in vivo (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Shank3 mutant characterization in vivo | $28,000.00 | 2011 | 7098
Shank3 mutant characterization in vivo | $0.00 | 2012 | 7098