@article{oai:niigata-u.repo.nii.ac.jp:00015288, author = {内山, 聖 and 里方, 一郎 and 西沢, 和倫 and 中山, 正成 and 伊東, 達雄}, issue = {8}, journal = {新潟医学会雑誌, 新潟医学会雑誌}, month = {Aug}, note = {To understand the molecular bases for congenital malformations, we generated the knockout mice of the homeobox genes Msx1 and Msx2. The expression of Msx1 and Msx2 is overlapped in many embryonic tissues during organogenesis, including neural plate, neural crest, teeth, endocardial cushion, and limb. Msx1 knockout mice exhibit cleft palate, developmental arrest of tooth, and craniofacial abnormalities. Msx2 knockout mice manifest defects of calvarial and axial skeleton, abnormal development of cerebellum, and defective tooth, hair follicle and mammary gland development. However, neither of these knockout mice showed the abnormality in the tissues where the expression of Msx1 and Msx2 is overlapped. Msx1, Msx2 double knockout mice exhibit multiple malformations including failure in neural tube closure and cardiovascular and preaxial limb anomalies. These results showed that Msx1 and Msx2 are essential at multiple sites during organogenesis and can make up for their function each other. To elucidate the function of Msx1 and Msx2, we tried to clarify the signaling pathway in which these genes are involved and could obtain an evidence that a signaling pathway BMP 4→Msx1, Msx2→BMP4 is utilized in common for neural tube closure, tooth development, cardiac looping, and limb formation. Therefore, Msx knockout mice are useful animal models to clarify the molecular bases for human congenital malformations.}, pages = {295--302}, title = {ノックアウトマウスを用いた先天異常の分子機構の解明}, volume = {114}, year = {2000} }