Eye Mutant Resource

眼睛突变体资源

• 批准号: 7770341
• 负责人: BO CHANG
• 金额: $ 45.67万
• 依托单位: JACKSON LABORATORY
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-02-01 至 2015-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7770341
• 关键词: Anatomy; Animal Model; Authorization documentation; Award; Biological Markers; Biological Models; Candidate Disease Gene; Cell physiology; Charge; Collection; Communities; DNA; DNA Markers; Databases; Defect; Development; Disease; Electronics; Electroretinography; Engineering; Ensure; Environment; Exhibits; Eye; Eye diseases; Fees; Future; Genes; Genetic; Genotype; Goals; Grant; Human; In Situ; Inbred Strain; Institutes; Laboratories; Literature; Location; Maps; Methods; Modeling; Molecular; Molecular Profiling; Mus; Mutant Strains Mice; Mutation; Nature; Online Mendelian Inheritance In Man; Ophthalmoscopy; Pathway interactions; Phenotype; Physiology; Positioning Attribute; Protocols documentation; Publications; Recovery; Research; Research Personnel; Resources; Retinal; Retinal Diseases; Retinal Neovascularization; Role; Scientist; Screening procedure; Services; Site; Structure; Study models; System; Systems Analysis; Technical Expertise; Techniques; Testing; Therapeutic; Time; Update; Variant; Vision research; Work; animal care; clinical phenotype; clinically relevant; cost; disease phenotype; human disease; improved; information gathering; interest; meetings; mouse model; mutant; neovascularization; novel; programs; public health relevance; repository; success; tool; web site

DESCRIPTION (provided by applicant): The main objective of the Eye Mutant Resource (EMR) is to identify, characterize, and preserve mice with genetically caused ocular disorders. Our purpose is to distribute these well-characterized models quickly and efficiently to support and promote vision research with the ultimate goal of advancing the elucidation, treatment, and cure of heritable eye diseases. Award of this grant is critical to the continuation of this unique resource. In this application, we will work toward enhancing the present EMR by developing robust genotyping protocols, fixing the genetic backgrounds of mutants to allow for comparison across mutations, cryo-preserving mutants to ensure their future availability, and improving the accessibility of the information in our EMR database. We will also increase the number of ocular mutants available to the research community two-fold during the grant period and continue our very successful screening program for new mutants with ocular diseases. Finally, we will complete the initial phenotypic and/or molecular characterization of ocular mutants previously identified, focusing initially on eight models exhibiting sub-retinal neovascularization. The models themselves and the information gathered on each mutant will be available to the research community through literature, electronic publications, and the updated EMR web site. It is expected that with the concerted effort and contribution from many groups using the EMR models, cumulatively, we will make a very significant impact on vision research. PUBLIC HEALTH RELEVANCE: Models to study eye diseases that occur in humans are important as reproducible experimental systems for elucidating pathways of normal development and function. Further, these models can be used to identify treatment targets and to test therapeutic strategies. The EMR focuses on identifying, characterizing and distributing such models.

描述（由申请人提供）：眼睛突变资源（EMR）的主要目的是识别，表征和保存遗传引起的眼部疾病的小鼠。我们的目的是快速有效地分发这些良好的模型，以支持和促进视觉研究，以推动阐明，治疗和治愈可遗传的眼部疾病的最终目标。这笔赠款的奖励对于继续这种独特资源至关重要。 在此应用程序中，我们将通过开发可靠的基因分型方案来增强当前的EMR，固定突变体的遗传背景，以允许在突变，冷冻的突变体之间进行比较，以确保其未来的可用性，并提高我们EMR数据库中信息的可访问性。在赠款期间，我们还将增加研究社区可用的眼突变体的数量，并继续为新的眼部疾病新突变体筛查计划。最后，我们将完成先前鉴定的眼突变体的初始表型和/或分子表征，最初集中在八种表现出下视视网膜新生血管形成的模型上。模型本身以及每个突变体上收集的信息将通过文献，电子出版物和更新的EMR网站提供给研究社区。预计，通过使用EMR模型的许多小组的共同努力和贡献，我们将对视力研究产生非常重大的影响。 公共卫生相关性：研究人类中发生的眼病的模型对于阐明正常发育和功能的途径的可再现实验系统很重要。此外，这些模型可用于识别治疗目标和测试治疗策略。 EMR专注于识别，表征和分发此类模型。