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）有能力充分参与KOMP2研究网络的成员，并支持其目标，以建立全球资源以了解哺乳动物基因功能。 Jax是小鼠遗传学和人类疾病小鼠模型的发展的领先中心。我们从深层的累积知识和杰克逊实验室科学家的独特专业知识中汲取了灵感，我们组装了必要的领导力，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系列进行高质量的功能评估。在JAX的众多先前资助的高吞吐表型计划中表现出了经验和可证明的成功，这为我们提议的中心增加了价值和效率。 JAX还提供了无与伦比的动物生产，饲养，评估和数据管理的记录，以应对该项目的挑战。 JAX KOMP2表型中心将：1）在每个菌株235个表型中获得1,250个突变菌株的主要人均数据； 2）使用自动呼叫程序，统计，技术和科学审查，对每个突变株的表型进行定量和定性评估； 3）及时有效地将表型数据传递到KOMP2数据收集中心； 4）开发创新的方法来提高表型过程的效率以及这些数据对科学界的价值。我们提出了一种双皮线策略，以从每个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，以完成对多器官系统的评估。一条管道致力于评估行为，神经生理学，视力，睡眠和听力，第二个管道可捕获代谢，心血管和免疫功能。我们通过在大规模努力（例如睡眠）中添加表型不足，并通过整合创新和技术开发的机会来进一步简化流程并确定降低整体成本的方法来增强管道设计的价值。我们已经组建了一个域专家小组，以提供所有数据的常规质量保证，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，并洞悉消除单个基因的功能后果。