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Int. J. Environ. Res. Public Health 2013, 10(12), 6335-6353; doi:10.3390/ijerph10126335
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Mouse Models of Mutations and Variations in Autism Spectrum Disorder-Associated Genes: Mice Expressing Caps2/Cadps2 Copy Number and Alternative Splicing Variants

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Received: 3 September 2013; in revised form: 5 November 2013 / Accepted: 8 November 2013 / Published: 27 November 2013
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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.
Keywords: CAPS2/CADPS2; dense-core vesicle; BDNF; GABAergic interneurons; CNV; ASD mouse model; social interaction; anxiety; maternal behavior CAPS2/CADPS2; dense-core vesicle; BDNF; GABAergic interneurons; CNV; ASD mouse model; social interaction; anxiety; maternal behavior
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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MDPI and ACS Style

Sadakata, T.; Shinoda, Y.; Sato, A.; Iguchi, H.; Ishii, C.; Matsuo, M.; Yamaga, R.; Furuichi, T. Mouse Models of Mutations and Variations in Autism Spectrum Disorder-Associated Genes: Mice Expressing Caps2/Cadps2 Copy Number and Alternative Splicing Variants. Int. J. Environ. Res. Public Health 2013, 10, 6335-6353.

AMA Style

Sadakata T, Shinoda Y, Sato A, Iguchi H, Ishii C, Matsuo M, Yamaga R, Furuichi T. Mouse Models of Mutations and Variations in Autism Spectrum Disorder-Associated Genes: Mice Expressing Caps2/Cadps2 Copy Number and Alternative Splicing Variants. International Journal of Environmental Research and Public Health. 2013; 10(12):6335-6353.

Chicago/Turabian Style

Sadakata, Tetsushi; Shinoda, Yo; Sato, Akira; Iguchi, Hirotoshi; Ishii, Chiaki; Matsuo, Makoto; Yamaga, Ryosuke; Furuichi, Teiichi. 2013. "Mouse Models of Mutations and Variations in Autism Spectrum Disorder-Associated Genes: Mice Expressing Caps2/Cadps2 Copy Number and Alternative Splicing Variants." Int. J. Environ. Res. Public Health 10, no. 12: 6335-6353.



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