Tsai H, Hardisty R E, Rhodes C, Kiernan A E, Roby P, Tymowska-Lalanne Z, Mburu P, Rastan S, Hunter A J, Brown S D, Steel K P
MRC Mammalian Genetics Unit and Mouse Genome Centre, Harwell, Oxon OX11 ORD, UK.
Hum Mol Genet. 2001 Mar 1;10(5):507-12. doi: 10.1093/hmg/10.5.507.
The Notch signalling pathway has recently been implicated in the development and patterning of the sensory epithelium in the cochlea, the organ of Corti. As part of an ongoing large-scale mutagenesis programme to identify new deaf or vestibular mouse mutants, we have identified a novel mouse mutant, slalom, which shows abnormalities in the patterning of hair cells in the organ of Corti and missing ampullae, structures that house the sensory epithelia of the semicircular canals. We show that the slalom mutant carries a mutation in the Jagged1 gene, implicating a new ligand in the signalling processes that pattern the inner ear neuro-epithelium.
Notch信号通路最近被认为与耳蜗（柯蒂氏器）感觉上皮的发育和模式形成有关。作为正在进行的大规模诱变计划的一部分，旨在鉴定新的耳聋或前庭小鼠突变体，我们发现了一种新的小鼠突变体——“障碍滑雪”，它在柯蒂氏器毛细胞的模式形成上存在异常，并且半规管中容纳感觉上皮的壶腹缺失。我们发现“障碍滑雪”突变体的Jagged1基因发生了突变，这表明在内耳神经上皮模式形成的信号传导过程中存在一种新的配体。
