title: Mouse models of mutations and variations in autism spectrum disorder-associated genes: mice expressing Caps2/Cadps2 copy number and alternative splicing variants.
abstract: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by disturbances in interpersonal relationships and behavior. Although the prevalence of autism is high, effective treatments have not yet been identified. Recently, genome-wide association studies have identified many mutations or variations associated with ASD risk on many chromosome loci and genes. Identification of the biological roles of these mutations or variations is necessary to identify the mechanisms underlying ASD pathogenesis and to develop clinical treatments. At present, mice harboring genetic modifications of ASD-associated gene candidates are the best animal models to analyze hereditary factors involved in autism. In this report, the biological significance of ASD-associated genes is discussed by examining the phenotypes of mouse models with ASD-associated mutations or variations in mouse homologs, with a focus on mice harboring genetic modifications of the Caps2/Cadps2 (Ca2+-dependent activator protein for secretion 2) gene.
authors.affiliation: Advanced Scientific Research Leaders Development Unit, Gunma University, Maebashi, Gunma 371-8511, Japan. tfuruichi@rs.tus.ac.jp.
authors.forename: Tetsushi
authors.initials: T
authors.lastname: Sadakata
authors.forename: Yo
authors.initials: Y
authors.lastname: Shinoda
authors.forename: Akira
authors.initials: A
authors.lastname: Sato
authors.forename: Hirotoshi
authors.initials: H
authors.lastname: Iguchi
authors.forename: Chiaki
authors.initials: C
authors.lastname: Ishii
authors.forename: Makoto
authors.initials: M
authors.lastname: Matsuo
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Yamaga
authors.forename: Teiichi
authors.initials: T
authors.lastname: Furuichi
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D004195:Disease Models, Animal; D018628:Gene Dosage; D005786:Gene Expression Regulation; D006801:Humans; D051379:Mice; D012307:Risk Factors
chemical_list: D002135:Calcium-Binding Proteins