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）储存库。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陷阱程序，导致突变和基因工程小鼠的生产和使用的虚拟爆炸。这些宝贵的资源只有通过集中储存库进行存档、管理并向科学界开放，才能得到充分利用。杰克逊实验室作为知识库的经验和能力、其现有项目的质量、管理系统及其卓越的研究声誉都表明，JAX将是MMRRC网络的一个强有力的补充。在本申请中，我们建议建立JAX MMRRC，其将：1）获得突变菌株; 2）进口和存档突变菌株; 3）将菌株作为冻存材料、从冻存材料中回收的小鼠、ES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）推广MMRRC菌株; 7）有一个交互式的知识库管理计划; 8）建立生物信息学基础设施，以操作和与其他MMRRC知识库交互，以及9）通过使用标准衍生技术和IPS技术从有价值的知识库疾病模型中开发多能干细胞资源，进行研究以增加JAX MMRRC菌株的实用性。JAX MMRRC将在获得资金后全面运作，并将为现有的MMRRC计划提供经验和能力。

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.