Mouse model of autism beased on human cases

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  • Shinmoto Keito
    RIKEN Brain Science Institute Hiroshima University School of Medicine, Hiroshima University
  • Nomura Jun
    RIKEN Brain Science Institute Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima University
  • Takumi Toru
    RIKEN Brain Science Institute Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima University

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  • 自閉症ヒト型マウスモデルの開発
  • ジヘイショウ ヒトガタ マウスモデル ノ カイハツ

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Abstract

Autism spectrum disorder (ASD) is a childhood psychiatric disorder manifestating abnormal social behavior. Genetic contribution has been considered to be the highest in ASD among psychiatric diseases. Copy number variation (CNV) in genome is paid attention to as a cause of diseases such as cancer and psychiatric diseases including ASD and schizophrenia. The mouse model of human chromosome 15q11 - q13 duplication, one of the most frequent CNVs in ASD, was developed as a model based on clinical cases. It is an important approach to analyze phenotypes of different kinds of models in the same platform and to find their convergence. Further development of new models will be expected using recently developed genome editing techniques such as CRISPR/Cas (Clustered Regularly Interspaced Short Palindromic Repeat/ CRISPR - associated protein) .

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