Mouse Models of Mutations and Variations in Autism Spectrum Disorder-Associated Genes: Mice Expressing Caps2/Cadps2 Copy Number and Alternative Splicing Variants

Tetsushi Sadakata, Yo Shinoda, Akira Sato, Hirotoshi Iguchi, Chiaki Ishii, Makoto Matsuo, Ryosuke Yamaga and Teiichi Furuichi
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Tetsushi Sadakata: Advanced Scientific Research Leaders Development Unit, Gunma University, Maebashi, Gunma 371-8511, Japan
Yo Shinoda: JST-CREST, Kawaguchi, Saitama 332-0012, Japan
Akira Sato: Department of Applied Biological Science, Tokyo University of Science, Noda, Chiba 278-8510, Japan
Hirotoshi Iguchi: Department of Applied Biological Science, Tokyo University of Science, Noda, Chiba 278-8510, Japan
Chiaki Ishii: Department of Applied Biological Science, Tokyo University of Science, Noda, Chiba 278-8510, Japan
Makoto Matsuo: Department of Applied Biological Science, Tokyo University of Science, Noda, Chiba 278-8510, Japan
Ryosuke Yamaga: Department of Applied Biological Science, Tokyo University of Science, Noda, Chiba 278-8510, Japan
Teiichi Furuichi: JST-CREST, Kawaguchi, Saitama 332-0012, Japan

IJERPH, 2013, vol. 10, issue 12, 1-19

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 (Ca 2+ -dependent activator protein for secretion 2) gene.

Keywords: CAPS2/CADPS2; dense-core vesicle; BDNF; GABAergic interneurons; CNV; ASD mouse model; social interaction; anxiety; maternal behavior (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2013
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