为了研究椎间盘发育的分子调控机制，我们已完成了1500个基因组规模的ENU正向遗传诱变筛选工作，通过筛选获得具有椎间盘发育缺陷的突变体ja002。前期工作已经初步定位ja002的致变基因为功能未知基因ivddd (IVD developmental defects)，并发现ivddd极有可能通过抑制RA信号进而参与调控椎间盘发育。本项目将从以下三个部分开展研究工作，致力于揭示ivddd调控椎间盘发育的分子机制：1）具有椎间盘发育缺陷的ja002突变体的表型分析。2）致变基因的定位克隆和功能初探。3）ivddd抑制RA信号进而参与调控椎间盘发育的分子机理研究。

In order to explain the molecular mechanism of intervertebral disc (IVD) development, we have conducted a large-scale (1500 genomes)ENU forward genetic screen. In the process, ja002 mutant was found to be with defects in IVD development. The preliminary work has initially identified a function-unknown gene ivddd (IVD developmental defects) as the mutated gene in the ja002 mutant. And ivddd is postulated to be involved in the regulation of IVD development by inhibiting RA signaling. This project will revolve around the following three tasks so as to find out the molecular mechanism of ivddd in regulating IVD development: 1) the phenotype analysis of ja002 mutant with IVD development defects, 2) the positional cloning and identification of the mutated gene, and 3) the molecular mechanism of ivddd in the regulation of IVD development.