Hancock John M, Adams Niels C, Aidinis Vassilis, Blake Andrew, Bogue Molly, Brown Steve D M, Chesler Elissa J, Davidson Duncan, Duran Christopher, Eppig Janan T, Gailus-Durner Valérie, Gates Hilary, Gkoutos Georgios V, Greenaway Simon, Hrabé de Angelis Martin, Kollias George, Leblanc Sophie, Lee Kirsty, Lengger Christoph, Maier Holger, Mallon Ann-Marie, Masuya Hiroshi, Melvin David G, Müller Werner, Parkinson Helen, Proctor Glenn, Reuveni Eli, Schofield Paul, Shukla Aadya, Smith Cynthia, Toyoda Tetsuro, Vasseur Laurent, Wakana Shigeharu, Walling Alison, White Jacqui, Wood Joe, Zouberakis Michalis
Mamm Genome. 2007 Mar;18(3):157-63. doi: 10.1007/s00335-007-9004-x. Epub 2007 Apr 10.
Understanding the functions encoded in the mouse genome will be central to an understanding of the genetic basis of human disease. To achieve this it will be essential to be able to characterize the phenotypic consequences of variation and alterations in individual genes. Data on the phenotypes of mouse strains are currently held in a number of different forms (detailed descriptions of mouse lines, first-line phenotyping data on novel mutations, data on the normal features of inbred lines) at many sites worldwide. For the most efficient use of these data sets, we have initiated a process to develop standards for the description of phenotypes (using ontologies) and file formats for the description of phenotyping protocols and phenotype data sets. This process is ongoing and needs to be supported by the wider mouse genetics and phenotyping communities to succeed. We invite interested parties to contact us as we develop this process further.
了解小鼠基因组中编码的功能对于理解人类疾病的遗传基础至关重要。要实现这一点,能够表征单个基因变异和改变的表型后果将必不可少。目前,有关小鼠品系表型的数据以多种不同形式(小鼠品系的详细描述、新突变的一线表型数据、近交系正常特征的数据)保存在全球许多地方。为了最有效地利用这些数据集,我们已启动一个进程,以制定表型描述标准(使用本体)以及表型分析方案和表型数据集描述的文件格式。这一进程正在进行中,需要更广泛的小鼠遗传学和表型分析群体的支持才能取得成功。在我们进一步推进这一进程时,我们邀请有兴趣的各方与我们联系。