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.

我们的目的是表征，繁殖和分发到合格的 研究人员来自此类小鼠的一系列突变小鼠或组织 作为疾病模型实验研究的刺激 与增加理解和 人眼科疾病的治疗控制。 这 大多数相关突变和近交系列已经 手头，准备扩大其他人使用。 这些包括 视网膜炎色素疾病中的四个主要模型 类，称为视网膜变性，神经，浦肯野细胞 变性和视网膜变性缓慢。 中间两个 像几种人类疾病一样，这些涉及变性 光感受器细胞和精选的神经元类 神经系统的其他地方。 控制遗传背景 并使用多个等位基因将扩展分析 机会大大。 先天性的其他模型 固定的夜间失明，异常的视神经轴突生长（如 人白化病）和眼动协调的缺陷 反射将被传播，新的相关突变将是 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，计算机的血统记录和 （与国家眼科研究所密切合作 管理）评估和优先级 要求繁殖种群，受影响的动物和 基因适当的控制，冷冻或固定组织，以及 核酸和蛋白质提取物。