Analysis of mouse and cellular models of psychiatric disorders using a chromosome engineering

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Recently CNVs (Copy number variations) have been widely known as a genetic structural variants, and accumulating evidence indicate some types of CNVs are associated with psychiatric diseases, eg, autism and schizophrenia. Since CNV includes deletion, duplication, translocation, and ranging from kilo- to mega-bases, some gene that locate in CNV locus may affected. Especially dosage sensitive genes may cause aberrant gene expression by chromosomal mutation may fundamental of pathogenesis of psychiatric diseases.In this study, we chose novel CNV, 15q25. Patients who delete this region have developmental disease with intellectual disability, myopathy, and autism. To understand pathophysiology relevant to this CNV, we decided to develop animal and cellular model of CNV by chromosome engineering. In this term, we successfully generated 15q25 del mouse ES cells. So far this cells haven't show any exquisite phenotype. Mouse model is now backcrossing with B6 strain to establish congenic line.