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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
- Source :
- International Journal of Environmental Research and Public Health, Vol 10, Iss 12, Pp 6335-6353 (2013), International Journal of Environmental Research and Public Health
- Publication Year :
- 2013
- Publisher :
- MDPI AG, 2013.
-
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.
- Subjects :
- Health, Toxicology and Mutagenesis
CNV
Gene Dosage
lcsh:Medicine
Epigenetics of autism
Review
Biology
behavioral disciplines and activities
Mice
Neurodevelopmental disorder
Risk Factors
mental disorders
medicine
Animals
Humans
Heritability of autism
dense-core vesicle
Gene
CAPS2/CADPS2
Genetics
Alternative splicing
Calcium-Binding Proteins
lcsh:R
Public Health, Environmental and Occupational Health
social interaction
medicine.disease
ASD mouse model
anxiety
GABAergic interneurons
Alternative Splicing
Disease Models, Animal
BDNF
Gene Expression Regulation
Autism spectrum disorder
Child Development Disorders, Pervasive
Autism
CADPS2
maternal behavior
Subjects
Details
- Language :
- English
- ISSN :
- 16604601
- Volume :
- 10
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- International Journal of Environmental Research and Public Health
- Accession number :
- edsair.doi.dedup.....15eea0714b4db789a02db8d6ee8d833a