Phenome Project

描述（由申请人提供）：近交系小鼠是模拟人类生物学和疾病的有力工具。然而，利用这一潜力，需要对多个自交系的综合表型数据。小鼠表型组计划是总部设在杰克逊实验室（TJL）的一项国际合作项目，旨在促进一组近交菌株及其衍生物的表型和基因型特征，以获得与人类疾病有关的广泛性状，并使数据公开。自1999年成立以来，在TJL机构基金、制药公司和研究基金会的支持下，小鼠表型组项目收集了多达40个近交菌株的大量表型和基因型数据，并创建了一个用于维护、分散和分析这些数据的公共数据库（小鼠表型组数据库；MPD）。这些资源对生物医学研究界越来越重要，这反映在MPD的大量使用以及利用MPD表型和SNP数据对自交系进行的重大研究进展中。小鼠表型组项目现在准备进行重大扩展，并寻求资金支持正在进行和扩展的功能。计划的主要项目包括进一步促进和协调合作努力，以产生有关自交系及其衍生物的综合表型和基因型数据；继续用质量控制的表型和SNP数据填充MPD，并在MPD上发布单倍型图；开发增强的和新的工具来检索和分析MPD数据；通过协调MPD与TJL小鼠基因组信息学小组的工作，加强社区对小鼠遗传学和生物学综合信息的获取。小鼠表型组项目的扩展将允许生物医学研究界继续利用这些资源以及新出现的序列、SNP和单倍型数据，以发现参与正常生物和疾病途径的生物和遗传因素的新信息。

DESCRIPTION (provided by applicant): Inbred strains of mice are a powerful tool for modeling human biology and disease. Exploiting this potential, however, requires comprehensive phenotypic data on multiple inbred strains. The Mouse Phenome Project is an international collaborative effort headquartered at The Jackson Laboratory (TJL) to promote the phenotypic and genotypic characterization of a set of inbred strains and their derivatives for a broad range of traits relevant to human disease and to make the data publicly available. Since its inception in 1999, with support from TJL institutional funds, pharmaceutical corporations, and research foundations, the Mouse Phenome Project has collected a significant amount of phenotypic and genotypic data on as many as 40 inbred strains and created a public database for maintaining, dispersing, and analyzing these data (Mouse Phenome Database; MPD). These resources are increasingly important to the biomedical research community, as reflected in the heavy use of the MPD and significant research advances using MPD phenotypic and SNP data for the inbred strains. The Mouse Phenome Project is now poised for a major expansion and seeks funding to support ongoing and expanded functions. Major projects planned include further promoting and coordinating collaborative efforts to generate comprehensive phenotypic and genotypic data on inbred strains and their derivatives; continuing to populate the MPD with quality-controlled phenotypic and SNP data, and posting haplotype maps on the MPD; developing enhanced and new tools for retrieval and analysis of MPD data; and enhancing community access to integrated information on mouse genetics and biology by coordinating MPD efforts with those of the Mouse Genome Informatics group at TJL. Expansion of the Mouse Phenome Project will allow the biomedical research community to continue to exploit these resources together with emerging sequence, SNP, and haplotype data to uncover new information on the biological and genetic factors participating in normal biological and disease pathways.