Mouse Models of 22q11.2-Associated Autism Spectrum DisorderNoboru Hiroi1,2,3*, Takeshi Hiramoto1, Kathryn M. Harper4, Go Suzuki5, and Shuken Boku1
- *Corresponding Author:
- Noboru Hiroi
Department of Psychiatry and Behavioral Sciences
Department of Neuroscience, Department of Genetics
Albert Einstein College of Medicine, Golding 104
1300 Morris Park Avenue Bronx, New York 10461
E-mail: [email protected]
Received date: August 16, 2012; Accepted date: September 01, 2012; Published date: September 05, 2012
Citation: Hiroi N, Hiramoto T, Harper KM, Suzuki G, Boku S (2012) Mouse Models of 22q11.2-Associated Autism Spectrum Disorder. Autism S1:001. doi:10.4172/2165-7890.S1-001
Copyright: © 2012 Hiroi N, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Copy number variation (CNV) of human chromosome 22q11.2 is associated with an elevated rate of autism spectrum disorder (ASD) and represents one of syndromic ASDs with rare genetic variants. However, the precise genetic basis of this association remains unclear due to its relatively large hemizygous and duplication region, including more than 30 genes. Previous studies using genetic mouse models suggested that although not all 22q11.2 genes contribute to ASD symptomatology, more than one 22q11.2 genes have distinct phenotypic targets for ASD symptoms. Our data show that deficiency of the two 22q11.2 genes Tbx1 and Sept5 causes distinct phenotypic sets of ASD symptoms.