Special Mouse Strains Resource

项目总结/摘要-整体组件 人类健康和疾病的许多方面在遗传上是复杂的;也就是说，它们是由多种因素引起的。 遗传、发育和环境因素之间的相互作用。理解这种复杂性是 个性化医疗的基础。不幸的是，人类遗传学研究仍然在许多方面受到限制 包括不充分的、回顾性的医疗记录、强大的样本量要求、不充分的 研究遗传相互作用的统计能力，以及关于许多基因的机制信息不足。 这些障碍很容易解决使用非人类，哺乳动物模型，如小鼠，设计 对遗传复杂性的精细解剖，即系统遗传学。生物医学研究界 在遗传多样性近交系和遗传参考群体方面进行了大量投资， 小鼠作为系统遗传学研究的工具。 本提案要求对杰克逊的特殊小鼠品系资源（SMSR）提供持续支持 实验室SMSR作为这些独特菌株的生物储存库，确保永久和 从高健康状态，质量控制，最先进的设施开放访问。目前资源 由300多种菌株组成，包括广泛使用的BXD和协作交叉菌株面板，但 重要的是，SMSR中可用的菌株根据以下需求进行了改变和开发： 研究社区。 SMSR的主要活动是：i）将这些菌株存档、保存并分发给合格的生物医学 研究人员，ii）提供完整，准确和可访问的信息有关的鼠标资源，iii） 与来自复杂特质社区的思想领袖组成的外部咨询委员会协商， 和未来的资源，iv）使用SMSR在研究和再现性的最佳实践方面提供领导 资源 SMSR还为开发新的 用于复杂性状分析的工具，以及获得现有菌株和群体进行大规模多中心 项目;并开展研究，以扩大专门绘图菌株的基因工程工具。

PROJECT SUMMARY/ABSTRACT – Overall Component Many aspects of human health and disease are genetically complex; that is, they arise from multiple interactions between genetic, developmental, and environmental factors. Understanding this complexity is the basis of personalized medicine. Unfortunately, human genetic studies are still limited in a number of ways including inadequate, retrospective medical records, formidable sample size requirements, insufficient statistical power to study genetic interactions, and insufficient mechanistic information about many genes. These obstacles are easily addressed using non-human, mammalian models, such as mice, that are designed for fine scale dissection of genetic complexity, i.e. systems genetics. The biomedical research community has made a significant investment in the genetically diverse inbred strains and genetic reference populations of mice as tools for systems genetics research. This proposal requests ongoing support for The Special Mouse Strain Resource (SMSR) at The Jackson Laboratory. The SMSR serves as the biorepository for these unique sets of strains, ensuring permanent and open access from high health status, quality-controlled, state-of-the-art facilities. The resource currently consists of more than 300 strains, including the widely used BXD and Collaborative Cross strain panels, but importantly, the strains available in the SMSR are changed and developed as dictated by the needs of research community. The major activities of the SMSR are to: i) archive, maintain, and distribute these strains to qualified biomedical researchers, ii) provide complete, accurate and accessible information related to the mouse resources, iii) confer with an external advisory board of thought leaders from the complex trait community to define current and future resources, iv) provide leadership in best practices for research and reproducibility using SMSR resources. The SMSR also provides infrastructure, outreach and collaborative opportunities for the development of new tools for complex trait analysis, as well as access to existing strains and populations for large-scale multicenter projects; and conducts research to expand tools for genetic engineering of specialized mapping strains.