Next Article in Journal
Issues to Consider When Measuring and Applying Socioeconomic Position Quantitatively in Immigrant Health Research
Previous Article in Journal
Assessing Weather Effects on Dengue Disease in Malaysia
Int. J. Environ. Res. Public Health 2013, 10(12), 6335-6353; doi:10.3390/ijerph10126335
Review

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

1,2,†
, 2,3,†
, 3
, 3
, 3
, 3
, 3
 and 2,3,*
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
View Full-Text   |   Download PDF [394 KB, uploaded 19 June 2014]   |   Browse Figures

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.

Share & Cite This Article

Export to BibTeX |
EndNote


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.

View more citation formats

Supplement

Related Articles

Article Metrics

Comments

Citing Articles

[Return to top]
Int. J. Environ. Res. Public Health EISSN 1660-4601 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert