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

A mouse knock-in model for ENGRAILED 2 autism susceptibility  

Although there is strong evidence for a genetic contribution to ASD, the isolation of specific causative genetic defects has been difficult. Previous research has shown that some individuals with ASD harbor single nucleotide polymorphisms (SNPs) in the homeobox transcription factor ENGRAILED 2 (EN2), making EN2 a likely ASD susceptibility gene. The goal of this proposal is to generate an autism-relevant mouse model by using advanced genomic approaches to replace the mouse En2 gene with the human EN2 risk gene (the resulting transgenic mouse is known as a knock-in). The EN2 knock-ins will then be examined to determine the function and expression of the EN2 risk allele, as well as any functional, anatomical, developmental and neurochemical phenotypes relevant to ASD. This information will be critical in the development of better diagnoses, treatments and preventions for ASD. Project Status


Funder National Institutes of Health
Fiscal Year Funding $227,135.00
Current Award Period 2008-2011
Project Number 4R33MH083509-03
Principal Investigator Millonig, James
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? Federal
Institution University of Medicine & Dentistry of New Jersey
State/Country New Jersey
Web Link 1 A mouse knock-in model for ENGRAILED 2 autism susceptibility (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects A mouse knock-in model for ENGRAILED 2 autism susceptibility | $152,667.00 | 2009 | 5R21MH083509-02
A mouse knock-in model for Engrailed 2 autism susceptibility | $152,764.00 | 2008 | R21MH083509-01