Tomasiewicz H, Ono K, Yee D, Thompson C, Goridis C, Rutishauser U, Magnuson T
Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106-4955.
Neuron. 1993 Dec;11(6):1163-74. doi: 10.1016/0896-6273(93)90228-j.
N-CAM is abundantly expressed in the nervous system in the form of numerous structural variants with characteristic distribution patterns and functional properties. N-CAM-180, the variant having the largest cytoplasmic domain, is expressed by all neurons. The N-CAM-180-specific exon 18 has been deleted to generate homozygous mice unable to express this N-CAM form. The most conspicuous mutant phenotype was in the olfactory bulb, where granule cells were both reduced in number and disorganized. In addition, precursors of these cells were found to be accumulated at their origin in the subependymal zone at the lateral ventricle. Analysis of the mutant in this region suggests that the mutant phenotype involves a defect in cell migration, possibly through specific loss of the polysialylated form of N-CAM-180, which is expressed in the migration pathway. Subtle but distinct abnormalities also were observed in other regions of the brain.
神经细胞黏附分子（N-CAM）以多种具有特征性分布模式和功能特性的结构变体形式在神经系统中大量表达。N-CAM-180是具有最大细胞质结构域的变体，由所有神经元表达。已删除N-CAM-180特异性外显子18以产生无法表达这种N-CAM形式的纯合小鼠。最明显的突变表型出现在嗅球，其中颗粒细胞数量减少且排列紊乱。此外，发现这些细胞的前体在侧脑室室管膜下区的起源处积累。对该区域突变体的分析表明，突变表型涉及细胞迁移缺陷，可能是由于在迁移途径中表达的N-CAM-180多唾液酸化形式的特异性缺失。在大脑的其他区域也观察到了细微但明显的异常。
