Responsible gene identification and elucidation of molecular interaction to participate in the stereocilia formation based on mouse forward genetics

小鼠遗传学研究为理解听觉的分子机制做出了重要贡献。在这项研究中，我们已经确定了一个错义突变的肌球蛋白VI在熊本shaker/waltzer小鼠。突变诱导部分和不完全剪接错误。免疫荧光分析显示MYO 6在表皮板上消失，并在融合的静纤毛束中定位错误。这些结果提示了新静纤毛形成机制的可能性。

Mouse genetics research has made important contributions to the understanding of the molecular mechanisms of hearing. In this study, we have identified a missense mutation in Myosin VI in Kumamoto shaker/waltzer mouse. The mutation induced partial and incomplete splicing errors. Moreover, by immunofluorescence analysis, MYO6 was disappeared from cuticular plates and was detected the mislocalization in the fused stereocilia bundles. These results suggested possibility with observation of new stereocilia formation mechanism.