Japanese Journal of Biological Psychiatry
Online ISSN : 2186-6465
Print ISSN : 2186-6619
A mouse model of 15q duplication towards understanding of the pathophysiology of autism
Moe NakanishiToru Takumi
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JOURNAL OPEN ACCESS

2012 Volume 23 Issue 4 Pages 267-271

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Abstract
Autism is the most common neurodevelopmental disorder characterized by core symptoms including deficits in social interaction, impaired communication, and restricted interest or repetitive behavior. Previous studies revealed that several chromosomal abnormalities are contributed to increased risk of autism. Because duplication of human chromosome 15q11- 13 is seen the most frequently in autism patients, we have generated mice with a 6. 3Mb duplication on mouse chromosome 7 that corresponds to human chromosome 15q11- 13. Mice with a paternal duplication (patDp/+) showed the abnormalities in sociality and vocalization, and behavioral inflexibility. In addition, we analyzed the brain of patDp/+ mice, and found some evidences that implicated the abnormality of serotonergic system in these mice. These results suggested that this chromosome- engineered mouse would provide a powerful tool to understand the pathophysiology of autism.
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© 2012 Japanese Society of Biological Psychiatry
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