title: Animal models of autism spectrum disorder (ASD): a synaptic-level approach to autistic-like behavior in mice.
abstract: Autism spectrum disorder (ASD) is one of the most common neurodevelopmental disorders and is thought to be closely associated with genetic factors. It is noteworthy that many ASD-associated genes reported by genome-wide association studies encode proteins related to synaptic formation, transmission, and plasticity. Therefore, it is essential to elucidate the relationship between deficiencies in these genes and the relevant ASD-related phenotypes using synaptic and behavioral phenotypic analysis of mice that are genetically modified for genes related to ASD (e.g., knockout or mutant mice). In this review, we focus on the behavioral-, cellular-, and circuit-level phenotypes, including synaptic formation and function, of several knockout mouse models with genetic mutations related to ASD. Moreover, we introduce our recent findings on the possible association of the dense-core vesicle secretion-related gene CAPS2/CADPS2 with ASD by using knockout mice. Finally, we discuss the usefulness and limitations of various mouse models with single gene mutations for understanding ASD.
authors.affiliation: Department of Applied Biological Science, Faculty of Science and Technology, Tokyo University of Science, 2641 Yamazaki, Noda, Chiba 278-8510, Japan.
authors.forename: Yo
authors.initials: Y
authors.lastname: Shinoda
authors.forename: Tetsushi
authors.initials: T
authors.lastname: Sadakata
authors.forename: Teiichi
authors.initials: T
authors.lastname: Furuichi
mesh_terms: D000818:Animals; D001522:Behavior, Animal / Q000502:physiology*; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002659:Child Development Disorders, Pervasive / Q000235:genetics* / Q000523:psychology*; D002675:Child, Preschool; D004195:Disease Models, Animal; D055106:Genome-Wide Association Study; D006801:Humans; D007223:Infant; D051379:Mice; D018345:Mice, Knockout; D008817:Mice, Mutant Strains; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D055495:Neurogenesis / Q000235:genetics; D009473:Neuronal Plasticity / Q000235:genetics; D010641:Phenotype; D022142:Secretory Vesicles / Q000235:genetics*; D013569:Synapses / Q000502:physiology*; D009435:Synaptic Transmission / Q000235:genetics*
chemical_list: C480975:CAPS2 protein, mouse; D002135:Calcium-Binding Proteins; D009419:Nerve Tissue Proteins