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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

Role of Caspr2 (CNTNAP2) in brain circuits - Project 1

Principal Investigator

Principal Investigator

Marin, Oscar

Description

Description

Contactin-associated protein-like 2 (CASPR2, encoded by the gene CNTNAP2) is a cell adhesion molecule that is essential for proper neuronal function. Common and rare genetic variations in CNTNAP2 are associated with an increased risk of autism spectrum disorders. A recessive mutation in exon 22 of the gene causes a syndromic form of autism called cortical dysplasia-focal epilepsy syndrome (CDFE). CDFE is a common cause of intractable epilepsy in children, and the cerebral cortex of individuals with CDFE often shows a disorganized structure. Elior Peles, in collaboration with Oscar Marin and Daniel Geschwind, is aiming to characterize two new CNTNAP2 mouse models. One model bears a mutation in exon 22, similar to the human mutation. In the second model, a marker gene replaces the first exon of CNTNAP2. The presence of the marker should allow the researchers to better understand the cellular changes that occur in mice with CNTNAP2 mutations. Peles’s lab has also generated model mice that lack CASPR2 completely. The group plans to obtain detailed anatomical, developmental and behavioral data from mice with the exon 22 mutation, and then compare the data with those obtained from mice lacking CASPR2. This comparison could reveal underlying mechanisms relevant to autism. The researchers also plan to characterize the basic electrophysiological properties of microcircuits in the cerebral cortex of the model mice. Finally, they plan to examine the effects of several drugs that may modify social behavior in these newly generated model mice.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

79525

Current Award Period

Current Award Period

2012-2015

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

Role of Caspr2 (CNTNAP2) in brain circuits - Project 1 (External web link)

Institution

Institution

Universidad Miguel Hernandez

State/Country

State/Country

Spain

Project Number

Project Number

239766OM

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Role of Caspr2 (CNTNAP2) in brain circuits - Project 1 | 0 | 2015 | 239766OM
Role of Caspr2 (CNTNAP2) in brain circuits - Project 1 | 79675 | 2013 | 239766OM
Role of Caspr2 (CNTNAP2) in brain circuits - Project 1 | 154145 | 2014 | 239766OM

 
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