The Jackson Laboratory KOMP2 Phenotyping Center

杰克逊实验室 KOMP2 表型中心

• 批准号: 8914802
• 负责人: ROBERT E BRAUN
• 金额: $ 24.44万
• 依托单位: JACKSON LABORATORY
• 依托单位国家: 美国
• 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/8914802
• 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

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)处于有利地位，可以作为KOMP2研究网络的成员全面参与，并支持其建立了解哺乳动物基因功能的全球资源的目标。JAX是老鼠遗传学和人类疾病老鼠模型开发的领先中心。从深厚的积累知识和杰克逊实验室科学家独特的专业知识中，我们聚集了必要的领导层，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。JAX在许多以前资助的高通量表型项目中展示的经验和被证明的成功为我们拟议的中心增加了价值和效率。JAX还在动物生产、畜牧业、评估和数据管理方面提供了无与伦比的记录，以应对该项目的挑战。JAX KOMP2表型鉴定中心将：1)获得每个菌株235个表型中1,250个突变菌株的每只小鼠的初步数据；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)以及时和高效的方式向KOMP2数据收集中心提供表型数据；4)开发创新方法，以提高表型鉴定过程的效率和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个队列中收集基本的生理数据，然后进行深入的尸检和组织学，以完成对多个器官系统的评估。其中一条管道用于评估行为、神经生理学、视觉、睡眠和听力，另一条管道负责新陈代谢、心血管和免疫功能。我们增加了管道设计的价值，增加了睡眠等大规模工作中未得到充分体现的表型，并整合了创新和技术开发的机会，以进一步简化流程并找到降低总体成本的方法。我们已经组建了一个领域专家小组，为所有数据提供例行质量保证，并参与对每一种KO菌株的全面评估。这项工作将促进将KO菌株识别为人类疾病的模型，并为消除单个基因的功能后果提供洞察力。