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

Tetsushi Sadakata²  Yo Shinoda³  Akira Sato¹  Hirotoshi Iguchi¹  Chiaki Ishii¹  Makoto Matsuo¹  Ryosuke Yamaga¹ 

[1] Department of Applied Biological Science, Tokyo University of Science, Noda, Chiba 278-8510, Japan; E-Mails:;Advanced Scientific Research Leaders Development Unit, Gunma University, Maebashi, Gunma 371-8511, Japan; E-Mail:;JST-CREST, Kawaguchi, Saitama 332-0012, Japan

关键词: CAPS2/CADPS2;    dense-core vesicle;    BDNF;    GABAergic interneurons;    CNV;    ASD mouse model;    social interaction;    anxiety;    maternal behavior;   

DOI  :  10.3390/ijerph10126335

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2013 by the authors; licensee MDPI, Basel, Switzerland.