Development of a new method to generate the model animal of human chromosomal disorders

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It is estimated that over 1% of human newborn have some kind of chromosomal anomalies including partial trisomy. Although incidence of chromosomal abnormalities is high, molecular mechanisms and causative genes of chromosomal disorders remain unclear, because we have no animal model of most part of chromosomal diseases. In this study, we challenged the development of the new method that created the model animal of chromosomal disorders using the CRE/loxP technology and local hopping system of transposon. We inserted the loxP and Tol2 transposon into the mouse genome by transgenic or homologous recombination techniques. We obtained several transgenic mouse lines and ES cell lines, and established the platform to generate the model animal of chromosomal disorders. In addition, we tried to develop the new phenotyping method using the micro computed tomography and contrast agents. These new techniques will help us to understand the molecular mechanism of human chromosomal disorders.