ANIMAL PHENOTYPING CORE

项目总结/摘要-动物表型 疾病动物模型的表型分析是我们中心理解，有效治疗， 在可能的情况下，预防儿童的智力和发育障碍。因此，联合国的使命 动物表型核心（核心E，AP）是为了帮助研究人员寻求发现行为， 生理、结构和代谢表型在不同的啮齿动物模型的智力和发育 残疾。AP Core主要在小鼠和大鼠中进行研究，以确定功能改变 由遗传、发育或环境操纵引起的，可能损害神经和行为 发展这些包括发育里程碑、感觉运动功能、认知功能的变化， 情感和社会行为，进食和活动模式，身体组成和/或能量消耗， 通过MRI/DTI（扩散张量成像）中的脑成像评估的脑活动和解剖模式， PET扫描。AP核心通过关注（1）行为，（2）代谢， （3）脑显像。通过结合现有的能力和经验丰富的教师，我们已经建立了 一个动物表型鉴定机构，特别适合于计划，执行和评估协调的行为，代谢， 以及发育中和成年啮齿动物的功能性神经成像评估。通过密切合作， 通过神经细胞工程和成像（NCEI）核心和人类临床表型（HCP）核心， 以及神经基因组学（NGEN）核心，定义的遗传，环境和/或 生理变化被彻底表征，以确定其在措施背景下的影响 与人类疾病表型最相关和可转化。AP Core还做出了重要贡献 RFK IDDRC签名研究项目的目标2，重点是KDM 5C突变和 IDD。除了其领导层的广泛专业知识和他们为这项工作带来的资源外， AP Core还强调了跨测量和分析能力集成的重要性，即，它 促进了方法学方法的组合，例如同时进行脑成像， 行为研究我们还强调，在可能的情况下，表型技术，最可比的 用于碘缺乏病儿童的药物。在追求这些科学目标的过程中，AP核心领导层， 在ADM核心监督下，还仔细监控IDDRC调查员核心访问和用户满意度， 有效性和质量控制。

PROJECT SUMMARY/ABSTRACT – ANIMAL PHENOTYPING Phenotyping animal models of disease is a critical element in our Center’s goal to understand, effectively treat, and when possible, prevent intellectual and developmental disabilities in children. Accordingly, the mission of the Animal Phenotyping Core (Core E, AP) is to assist investigators seeking to discover behavioral, physiological, structural and metabolic phenotypes in diverse rodent models of intellectual and developmental disabilities. The AP Core performs studies primarily in mice and rats to identify the functional alterations resulting from genetic, developmental or environmental manipulations that may impair neural and behavioral development. These include changes in developmental milestones, sensorimotor function, cognitive function, affective and social behaviors, feeding and activity patterns, body composition and/or energy expenditure, patterns of brain activity and anatomy as assessed by brain imaging in MRI/DTI (diffusion tensor imaging) and PET scans. The AP Core accomplishes its goals through SubCores focused on (1) behavior, (2) metabolism, and (3) brain imaging. By combining existing capabilities and highly experienced faculty we have established an animal phenotyping facility uniquely suited to plan, perform and evaluate coordinated behavioral, metabolic, and functional neuroimaging assessments in developing and adult rodents. Through close collaborative efforts with the Neural Cell Engineering and Imaging (NCEI) Core and the Human Clinical Phenotyping (HCP) Core, as well as the Neurogenomics (NGEN) Core, the consequences of defined genetic, environmental and/or physiological alterations are thoroughly characterized to determine their impact in the context of measures most relevant and translatable to the human disease phenotype. The AP Core also makes critical contributions to Aim 2 of the RFK IDDRC signature research project focused on links between mutations in KDM5C and IDD. In addition to the wide range of expertise of its leadership and the resources they bring to this effort, the AP Core also emphasizes the importance of integration across measurement and analytical capabilities, i.e., it facilitates a combination of methodological approaches such as pursuit of brain imaging simultaneously with behavioral studies. We also emphasize, when possible, phenotyping techniques that are most comparable to those used in children with IDD. In pursuit of these scientific objectives, the AP Core leadership, in concert with ADM Core oversight, also carefully monitors IDDRC investigator Core access and user satisfaction, cost effectiveness and quality control.