Laboratory of Developmental Biology and Genomics, BK21 Program for Veterinary Science, Institute for Veterinary Science, College of Veterinary Medicine, Seoul National University, Seoul 151-742, Korea.
BMB Rep. 2010 Feb;43(2):79-90. doi: 10.5483/bmbrep.2010.43.2.079.
Mouse models are crucial for the functional annotation of human genome. Gene modification techniques including gene targeting and gene trap in mouse have provided powerful tools in the form of genetically engineered mice (GEM) for understanding the molecular pathogenesis of human diseases. Several international consortium and programs are under way to deliver mutations in every gene in mouse genome. The information from studying these GEM can be shared through international collaboration. However, there are many limitations in utility because not all human genes are knocked out in mouse and they are not yet phenotypically characterized by standardized ways which is required for sharing and evaluating data from GEM. The recent improvement in mouse genetics has now moved the bottleneck in mouse functional genomics from the production of GEM to the systematic mouse phenotype analysis of GEM. Enhanced, reproducible and comprehensive mouse phenotype analysis has thus emerged as a prerequisite for effectively engaging the phenotyping bottleneck. In this review, current information on systematic mouse phenotype analysis and an issue-oriented perspective will be provided.
小鼠模型对于人类基因组的功能注释至关重要。包括基因打靶和基因陷阱在内的基因修饰技术，以基因工程小鼠（GEM）的形式，为理解人类疾病的分子发病机制提供了强大的工具。几个国际联合组织和项目正在进行中，旨在在小鼠基因组中引入每个基因的突变。通过国际合作，可以共享这些 GEM 的研究信息。然而，由于并非所有人类基因都在小鼠中被敲除，并且它们还没有通过标准化的方法表型特征化，因此在共享和评估 GEM 的数据方面存在许多限制。最近在小鼠遗传学方面的改进，现在已经将小鼠功能基因组学的瓶颈从 GEM 的产生转移到了 GEM 的系统小鼠表型分析上。因此，增强、可重复和全面的小鼠表型分析已成为有效应对表型瓶颈的前提条件。在这篇综述中，将提供关于系统小鼠表型分析的最新信息和面向问题的观点。
