ISOLATION OF CONGENITAL STATIONARY NIGHT BLINDNESS GENES

鉴定和鉴定多种蛋白质的功能 是正常视觉功能所必需的，这是 生物医学研究。我们描述了一种突变的小鼠模型，其表型 模仿一种名为先天性静止性夜盲的人类疾病 (CSNB)。小鼠的突变被命名为nob，因为它的 视网膜电流图没有b波。我们的初步研究已本地化 X染色体的nob基因，位于与人类同源的区域 它包含负责CSNB1、CSNB2和CSNB4的基因，以及两个 视网膜色素变性的类型(RP2和RP3)。 具体目标是：(1)将nob基因定位于特定区域。 在X染色体上，(2)通过定位鉴定小鼠nob基因 克隆和(3)确定人类nob同源物中的突变是否 对眼疾负有责任。我们假设隔绝和 该基因突变导致基因突变的特征 视网膜外部和内部之间的交流将提供洞察力 研究视网膜外部突触传递的复杂机制。 此外，这个突变的小鼠将提供一个研究的模型系统 视网膜中的基因疗法。这些研究的最终目标是 更全面地了解突变及其在疾病中的作用 扰乱正常的视觉功能，以便更有针对性的治疗 被设计用于治愈或治疗相关的眼病。

Identifying and characterizing the function of the numerous proteins that are required for normal visual function is an important goal in biomedical research. We describe a mutant mouse model whose phenotype mimics a human disease called congenital stationary night blindness (CSNB). The mouse mutation has been named nob because its electroretinogram has no b-wave. Our preliminary studies have localized the nob gene to the X-chromosome, in a region syntenic to that in humans that contains the genes responsible for CSNB1, CSNB2 and CSNB4, and two forms of retinitis pigmentosa (RP2 and RP3). The specific aims are: (1) localize the nob gene to a specific region on the X-chromosome, (2) identify the mouse nob gene by positional cloning and (3) determine if mutations in the human homologue of nob are responsible for eye disease. We hypothesize that the isolation and characterization of the mutation in this gene responsible for disrupting communication between the outer and inner retina will provide insight into the complex mechanism of synaptic transmission in the outer retina. Further, this mutant mouse will provide a model system in which to study gene therapy in the retina. The ultimate goal of these studies is to gain a more complete understanding of the mutation and its role in disrupting normal visual function, so that more targeted therapies can be devised to either cure or treat associated eye diseases.