INHERITED RETINAL DEGENERATIONS IN MUTANTS

突变体遗传性视网膜变性

• 批准号: 3551974
• 负责人: RICHARD L SIDMAN
• 金额: $ 9.35万
• 依托单位: HARVARD MEDICAL SCHOOL
• 依托单位国家: 美国
• 财政年份: 1990
• 资助国家: 美国
• 起止时间: 1990-06-01 至 1992-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3551974
• 关键词: animal breeding; animal colony; biomedical facility; cerebellar Purkinje cell; computer data analysis; disease /disorder model; eye movements; genetic disorder; genetic strain; laboratory mouse; model design /development; molecular pathology; mutant; neural degeneration; retina degeneration; retinitis pigmentosa; visual photoreceptor

Our aim is to characterize, breed and distribute to qualified investigators a series of mutant mice or tissus from such mice, as a stimulus to the experimental study of disease models relevant to the goal of increasing the understanding and therapeutic control of human ophthalmological disorders. The majority of the relevant mutations and inbred lines are already in hand, ready to be expanded for use by others. These include four major models of diseases in the retinitis pigmentosa class, named Retinal degeneration, Nervous, Purkinje cell degeneration, and Retinal degeneration slow. The middle two of these, like several of the human diseases, involve degeneration of photoreceptor cells and selected classes of neurons elsewhere in the nervous system. Control of genetic background and use of multiple alleles will extend the analytical opportunities considerably. Additional models of congenital stationary night blindness, aberrant optic axon growth (as in human albinos), and defects of eye movement coordination reflexeswill be propagated, and new relevant mutations will be added as they are developed. An administrative mechanism will be established to foster optimal standards of animal care and genetic quality control, computerized pedigree recording, and (in close cooperation with National Eye Institute administration) evaluation and prioritization of outside requests for breeding stock, affected animals and genetically-appropriate controls, frozen or fixed tissues, and nucleic acid and protein extracts.

我们的目标是鉴定、培育和分销合格的 研究一系列突变小鼠或来自此类小鼠的组织， 作为疾病模型实验研究的刺激 与增进理解和认识的目标相关 人类眼科疾病的治疗控制。 这 大多数相关突变和自交系已经 掌握在手，随时可以扩展以供其他人使用。 这些包括 色素性视网膜炎的四种主要疾病模型 类，名为视网膜变性，神经性，浦肯野细胞 变性，视网膜变性缓慢。 中间的两个 这些，像一些人类疾病一样，涉及退化 感光细胞和选定类别的神经元 神经系统的其他地方。 遗传背景的控制 多个等位基因的使用将扩展分析范围 机会相当大。 先天性的其他模型 静止性夜盲症、视轴突生长异常（如 人类白化病患者）和眼动协调缺陷 反射将被传播，新的相关突变将被传播 在开发时添加。 行政机制将 建立以促进动物护理的最佳标准和 遗传质量控制、计算机化谱系记录以及 （与国家眼科研究所密切合作 管理）外部评估和优先级 对种畜、受影响动物和 遗传适当的对照、冷冻或固定的组织，以及 核酸和蛋白质提取物。