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The Jackson Laboratory KOMP2 Phenotyping Center

杰克逊实验室 KOMP2 表型中心

基本信息

批准号：
9059842
负责人：
ROBERT E BRAUN
金额：
$ 0.6万
依托单位：
JACKSON LABORATORY
依托单位国家：
美国
项目类别：
财政年份：
2011
资助国家：
美国
起止时间：
2011-09-16 至 2016-07-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9059842
关键词：
Animals Autopsy Award Behavior Biological Biological Assay Cardiovascular Physiology Collection Communication Communities Cryopreservation Data Data Collection Data Coordinating Center Development Disease Dissection Ensure Evaluation Extracellular Domain Funding Genes Genetic Goals Health Health Status Hearing Histology Human Image Information Management International Knock-out Knockout Mice Knowledge Laboratory Scientists Lead Leadership Link Measures Metabolic Modeling Morphology Mus Mutation Office of Administrative Management Phenotype Physiological Physiology Population Control Positioning Attribute Procedures Process Production Relative (related person)Research Research Personnel Resources Role Site Sleep System Technical Expertise Technology Testing The Jackson Laboratory Time Validation Vision Work base body system cohort cost cost effective data management design experience functional genomics gene function genetic resource human disease immune function improved innovation insight meetings member mouse model multidisciplinary mutant neurophysiology new technology programs quality assurance screening sex success technology development

项目摘要

DESCRIPTION (provided by applicant): The Jackson Laboratory (JAX) is well positioned to fully participate as a member of the KOMP2 Research Network and support its objectives to build a global resource for understanding mammalian gene function. JAX is a leading center for mouse genetics and the development of mouse models of human disease. Drawing from deep cumulative knowledge and the unique spectrum of expertise of Jackson Laboratory scientists, we have assembled the necessary leadership and created a blueprint for a cost-effective JAX KOMP2 Phenotyping Center that will produce high quality functional assessments of KOMP strains. Demonstrated experience and proven success in numerous previously funded high throughput phenotyping programs at JAX adds value and efficiency to our proposed Center. JAX also offers an unparalleled track record for animal production, husbandry, evaluation and data management required to meet the challenges of this project. The JAX KOMP2 Phenotyping Center will: 1) obtain primary, per-mouse data for 1,250 mutant strains across 235 phenotypes per strain; 2) provide quantitative and qualitative assessment of phenotypes for each mutant strain, using automated calling procedures, statistical, technical and scientific review; 3) deliver phenotypic data to the KOMP2 Data Collection Center in a timely and efficient manner; and 4) develop innovative approaches to increase the efficiency of phenotyping processes and the value of these data to the scientific community. We present a dual-pipeline strategy to collect essential physiological data from 2 cohorts of each KO strain, followed by in-depth necropsy and histology to complete the assessment of multiple organ systems. One pipeline is devoted to evaluation of behavior, neurophysiology, vision, sleep and hearing, and a second pipeline captures metabolic, cardiovascular and immune function. We have augmented the value of the pipeline design by adding phenotypes underrepresented in large-scale efforts, such as sleep, and by integrating opportunities for innovation and technology development to further streamline the process and identify ways to reduce overall costs. We have assembled a panel of Domain Experts to provide routine quality assurance of all data and participate in comprehensive assessments for each KO strain. This effort will promote the identification of KO strains as models for human disease and provide insight into functional consequences of eliminating a single gene.

描述（由申请人提供）：杰克逊实验室 (JAX) 完全有能力作为 KOMP2 研究网络的成员全面参与，并支持其建立全球资源以了解哺乳动物基因功能的目标。 JAX 是小鼠遗传学和人类疾病小鼠模型开发的领先中心。凭借杰克逊实验室科学家深厚的累积知识和独特的专业知识，我们聚集了必要的领导力，并为具有成本效益的 JAX KOMP2 表型中心创建了蓝图，该中心将对 KOMP 菌株进行高质量的功能评估。在 JAX 之前资助的众多高通量表型分析项目中展示的经验和经过验证的成功为我们拟议的中心增加了价值和效率。 JAX 还提供了应对该项目挑战所需的动物生产、饲养、评估和数据管理方面无与伦比的记录。 JAX KOMP2 表型分析中心将： 1) 获得 1,250 个突变株的每只小鼠的主要数据，每个株有 235 个表型； 2) 使用自动调用程序、统计、技术和科学审查，对每个突变菌株的表型进行定量和定性评估； 3）及时高效地将表型数据传送至KOMP2数据采集中心； 4) 开发创新方法来提高表型分析过程的效率以及这些数据对科学界的价值。我们提出了一种双管道策略，从每个 KO 菌株的 2 个队列中收集必要的生理数据，然后进行深入的尸检和组织学分析，以完成对多个器官系统的评估。第一个管道致力于评估行为、神经生理学、视力、睡眠和听力，第二个管道捕获代谢、心血管和免疫功能。我们通过添加在大规模工作中未被充分代表的表型（例如睡眠），并通过整合创新和技术开发机会来进一步简化流程并找到降低总体成本的方法，从而增强了管道设计的价值。我们组建了一个领域专家小组，为所有数据提供常规质量保证，并参与每个 KO 菌株的全面评估。这项工作将促进 KO 菌株作为人类疾病模型的鉴定，并深入了解消除单个基因的功能后果。