MODELS OF HUMAN HEREDITARY EYE DISEASES

人类遗传性眼病模型

• 批准号: 3264821
• 负责人: JOHN R HECKENLIVELY
• 金额: $ 17.44万
• 依托单位: LOS ANGELES COUNTY HARBOR-UCLA MED CTR
• 依托单位国家: 美国
• 财政年份: 1988
• 资助国家: 美国
• 起止时间: 1988-08-01 至 1991-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3264821
• 关键词: autosomal recessive trait; chromosome disorders; congenital eye disorder; disease /disorder model; electrooculography; electroretinography; genetic disorder; genetic mapping; genetic strain; inbreeding; laboratory mouse; linkage mapping; mutant; retina degeneration

There is a need for a systematic approach to identify and describe genetically determined eye disorders in mice. Our preliminary screening of mouse colonies, strains, and mutant stocks at the Jackson Laboratory (JAX) using modified clinical techniques which screen for most common human ocular disorders revealed a large number of mouse ocular abnormalities heretofore not known or well characterized. Since there is a high genetic homology between mouse and human genome, ascertainment, characterization, and gene mapping in mouse eye disorders is likely to lead to a definition of large numbers of mouse models of human ocular diseases. Since only a portion of the JAX stocks have been evaluated, it is expected there will be a large number of additional ocular disorders found. The methodology calls for a true partnership between a clinician/ophthalmologist and mouse geneticist/mapping expert. The protocol includes the initial and continual screening of a large number of strains and mutants from JAX stocks by biomicroscopy and indirect ophthalmoscopy. Along with clinical characterization of the disorder, studies of genetic etiology and mapping of Mendelian disorders will be done. The uniqueness of each disorder will be confirmed by breeding experiments and linkage analysis; the latter technique will also map the disorder to a specific chromosomal site which will allow for comparative mapping between man and mouse for these conditions. Early publications of findings will be made so that the disorders are known and made available immediately to the scientific community. Further indepth studies will be done in our laboratories specifically on retinal disorders.

需要采用系统的方法来识别和描述 小鼠遗传确定的眼部疾病。 我们的初步 筛选小鼠菌落，菌株和突变库存 杰克逊实验室（JAX）使用改良的临床技术 哪个最常见的人类眼部疾病的屏幕揭示了一个 迄今未知的大量小鼠眼异常 或表征良好。 由于有高遗传同源性 在小鼠和人类基因组之间，确定性， 表征和小鼠眼部疾病中的基因映射是 可能会导致大量鼠标模型的定义 人眼疾病。 由于只有一部分JAX股票 已经评估过，预计会有大量 发现了其他眼部疾病。 该方法要求在 临床医生/眼科医生和小鼠遗传学家/地图专家。 该协议包括大型的初始和持续筛选 生物显微镜的JAX库存的菌株和突变体数量 和间接眼镜检查。 以及临床 疾病的表征，遗传病因的研究和 将进行孟德尔疾病的映射。 独特性 每种疾病将通过繁殖实验和 链接分析；后一种技术还将将疾病映射到 一个特定的染色体部位，可以进行比较 在这些条件下，人与鼠标之间的映射。 早期的调查结果出版物将成为疾病 已知并立即提供科学 社区。 进一步的深入研究将在我们的 专门针对视网膜疾病的实验室。