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Int. J. Environ. Res. Public Health 2013, 10(12), 6335-6353; doi:10.3390/ijerph10126335

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

1
Advanced Scientific Research Leaders Development Unit, Gunma University, Maebashi, Gunma 371-8511, Japan
2
JST-CREST, Kawaguchi, Saitama 332-0012, Japan
3
Department of Applied Biological Science, Tokyo University of Science, Noda, Chiba 278-8510, Japan
These authors contributed equally to this work.
*
Author to whom correspondence should be addressed.
Received: 3 September 2013 / Revised: 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. View Full-Text
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
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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.

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