title: Mouse Models of 22q11.2-Associated Autism Spectrum Disorder.
abstract: 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 genesTbx1andSept5causes distinct phenotypic sets of ASD symptoms.
authors.affiliation: Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, Golding 104, 1300 Morris Park Avenue, Bronx, NY, 10461 USA ; Department of Neuroscience, Albert Einstein College of Medicine, Golding 104, 1300 Morris Park Avenue, Bronx, NY, 10461 USA ; Department of Genetics, Albert Einstein College of Medicine, Golding 104, 1300 Morris Park Avenue, Bronx, NY, 10461 USA.
authors.forename: Noboru
authors.initials: N
authors.lastname: Hiroi
authors.affiliation: Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, Golding 104, 1300 Morris Park Avenue, Bronx, NY, 10461 USA.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Hiramoto
authors.affiliation: Department of Psychiatry & Behavioral Sciences, Northwestern University, Ward Building Room 9-258, 303 E. Chicago Ave. Chicago, IL 60611, USA.
authors.forename: Kathryn M
authors.initials: KM
authors.lastname: Harper
authors.affiliation: Department of Psychiatry, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama 359-8513, Japan.
authors.forename: Go
authors.initials: G
authors.lastname: Suzuki
authors.affiliation: Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, Golding 104, 1300 Morris Park Avenue, Bronx, NY, 10461 USA.
authors.forename: Shuken
authors.initials: S
authors.lastname: Boku
keywords: 22q11.2; Copy number variation; Sept5; Syndromic ASD; Tbx1
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