Journal
EXPERIMENTAL ANIMALS
Volume 62, Issue 2, Pages 71-78Publisher
INT PRESS EDITING CENTRE INC
DOI: 10.1538/expanim.62.71
Keywords
ASD; autism; BDNF; CAPS2
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Funding
- Japanese Ministry of Education, Culture, Sports, Science and Technology
- Japan Society for the Promotion of Science
- Japan Science and Technology Agency
- Hamaguchi Foundation for the Advancement of Biochemistry
- Grants-in-Aid for Scientific Research [25860169, 23240062, 23300137] Funding Source: KAKEN
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Autism spectrum disorder (ASD) is one of the most common neurodevelopmental disorders and is thought to be closely associated with genetic factors. It is noteworthy that many ASD-associated genes reported by genome-wide association studies encode proteins related to synaptic formation, transmission, and plasticity. Therefore, it is essential to elucidate the relationship between deficiencies in these genes and the relevant ASD-related phenotypes using synaptic and behavioral phenotypic analysis of mice that are genetically modified for genes related to ASD (e.g., knockout or mutant mice). In this review, we focus on the behavioral-, cellular-, and circuit-level phenotypes, including synaptic formation and function, of several knockout mouse models with genetic mutations related to ASD. Moreover, we introduce our recent findings on the possible association of the dense-core vesicle secretion-related gene CAPS2/CADPS2 with ASD by using knockout mice. Finally, we discuss the usefulness and limitations of various mouse models with single gene mutations for understanding ASD.
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