Establishing a Mutant Mouse Regional Resource Center at The Jackson Laboratory

描述（由申请人提供）：本申请建议在杰克逊实验室（JAX）建立第四个突变小鼠区域资源中心（MMRRC）存储库。60多年来，具有模仿人类疾病表型的突变小鼠在理解哺乳动物生物学和人类遗传疾病的遗传学基础方面发挥了关键作用。转基因和基因靶向技术的出现，加上大规模诱变和基因诱捕程序，导致了突变和基因工程小鼠的生产和使用的实际爆炸式增长。只有将这些宝贵的资源存档、管理，并通过集中存储库向科学界开放，这些资源才能得到充分利用。Jackson实验室作为存储库的经验和能力、现有项目的质量、管理系统以及卓越研究的声誉都表明，JAX将成为MMRRC网络的有力补充。在这个应用中，我们建议建立一个JAX MMRRC，它将：1)获得突变株；2)导入和归档突变菌株；3)将菌株作为冷冻保存材料、从冷冻保存材料中恢复的小鼠、胚胎干细胞系或活小鼠分发；4)实施最先进的质量控制程序；5)提供客户支持和技术服务；6)促进MMRRC菌株；7)有一个交互式的存储库管理计划；8)建立生物信息学基础设施来操作和与其他MMRRC储存库进行交互；9)通过使用标准衍生技术和IPS技术从有价值的储存库疾病模型中开发多能干细胞资源，开展研究以增加JAX MMRRC菌株的实用性。JAX MMRRC将在获得资金后充分发挥作用，并将为现有的MMRRC项目提供经验和能力。

DESCRIPTION (provided by applicant): This application proposes to establish a fourth Mutant Mouse Regional Resource Center (MMRRC) repository at The Jackson Laboratory (JAX). For over 60 years mutant mice, with phenotypes mimicking human diseases, have played a critical role in understanding the genetics underlying mammalian biology and human genetic disorders. The advent of transgenic and gene targeting technologies, coupled with large scale mutagenesis and gene trap programs has led to a virtual explosion in the production and use of mutant and genetically engineered mice. These valuable resources can only be fully exploited if they are archived, managed, and made accessible to the scientific community by centralized repositories. The Jackson Laboratory's experience and capacity as a repository, the quality of its existing programs, its management systems, and its reputation for research excellence all demonstrate that JAX will be a strong addition to the MMRRC network. In this application, we propose to establish a JAX MMRRC that would: 1) acquire mutant strains; 2) import and archive mutant strains; 3) distribute strains as cryopreserved material, mice recovered from cryopreserved material, ES cell lines, or live mice; 4) implement a state-of-the-art quality control program; 5) provide customer support and technical service; 6) promote MMRRC strains; 7) have an interactive Repository management plan; 8) establish the bioinformatics infrastructure to operate and to interact with other MMRRC repositories, and 9) conduct research to add utility to JAX MMRRC strains by developing pluripotent stem cell resources from valuable Repository disease models using both standard derivation techniques and IPS technology. The JAX MMRRC will be fully functional upon funding and will offer experience and capacity to the existing MMRRC program.