Autism Research Database - Strategic Plan Question Project Details | IACC

Project Element	Element Description
Project Title Project Title	Mouse Model of Dup15q Syndrome
Principal Investigator Principal Investigator	Dindot, Scott
Description Description	Maternal derived duplications of chromosome 15q (Dup15q) are present in approximately 3-5% of individuals diagnosed with autism spectrum disorder (ASD). The ubiquitin protein ligase E3A gene (UBE3A) is located within the duplicated region and overexpressed in Dup15q patients. Overexpression of the UBE3A gene in the brain is believed to underlie the social, cognitive and motor deficits seen in Dup15q patients. The purpose of this study is to develop a series of transgenic mouse models of Dup15q syndrome, including mice with inducible and constitutive Ube3a transgenes. These models will be available for the scientific community to study the molecular and neurological mechanisms causing Dup15q syndrome.
Funder Funder	Simons Foundation
Funding Country Funding Country	United States
Fiscal Year Funding Fiscal Year Funding	0
Current Award Period Current Award Period	2013-2016
Strategic Plan Question Strategic Plan Question	Question 2: What is the Biology Underlying ASD?
Funder’s Project Link Funder’s Project Link	No URL available.
Institution Institution	Texas AgriLife Research
Institute Location Institute Location	United States
Project Number Project Number	288548
Government or Private Government or Private	Private
History/Related Projects History/Related Projects	Mouse Model of Dup15q Syndrome \| 84253 \| 2013 \| 288548 Mouse Model of Dup15q Syndrome \| 670 \| 2014 \| 288548 Mouse Model of Dup15q Syndrome \| 32635 \| 2015 \| 288548

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