Kamiguchi H, Hlavin M L, Lemmon V
Department of Neurosciences, Case Western Reserve University, Cleveland, Ohio, 44106, USA.
Mol Cell Neurosci. 1998 Sep;12(1-2):48-55. doi: 10.1006/mcne.1998.0702.
Mutations in the cell adhesion molecule L1 cause severe developmental anomalies in the human nervous system. Recent descriptions of L1 gene knock-out mice from three research groups demonstrate that these mice are strikingly similar to humans with mutations in the L1 gene. In both humans and mice there are defects in the development of the corticospinal tract and cerebellar vermis, hydrocephalus, and impaired learning. The production of a viable animal model for X-linked hydrocephalus suggests that unanswerable questions posed by the human disease will finally be approachable using modern experimental methods.
细胞粘附分子L1的突变会导致人类神经系统出现严重的发育异常。三个研究小组最近对L1基因敲除小鼠的描述表明，这些小鼠与L1基因突变的人类极为相似。在人类和小鼠中，皮质脊髓束和小脑蚓部的发育均存在缺陷、出现脑积水以及学习能力受损。一种针对X连锁脑积水的可行动物模型的产生表明，利用现代实验方法最终将能够解答人类疾病提出的无法回答的问题。
