Agrin promotes anophthalmia and microphthalmia

Agrin 促进无眼症和小眼症

• 批准号: 6835865
• 负责人: PETER Gerard FUERST
• 金额: $ 4.3万
• 依托单位: JACKSON LABORATORY
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-06-19 至 2006-06-18
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6835865
• 关键词: agrin; animal genetic material tag; artificial chromosomes; developmental genetics; developmental neurobiology; eye; gene expression; genetically modified animals; immunocytochemistry; in situ hybridization; laboratory mouse; microphthalmos; neurogenetics; neuropathology; phenotype; postdoctoral investigator; protein localization; protein structure function

DESCRIPTION (provided by applicant):Anophthalmia and microphthalmia are defects in the development of the eye occurring spontaneously at a frequency of one to twelve percent in C57BL/6J mice. Several recently generated strains of C57BL/6J mice have an increased incidence of these defects including one line in which penetrance is complete, but dependent on the genetic background. These mice carry multiple copies of an agrin transgene fused to CFP. Agrin plays a critical role in development of the neuromuscular junction. Agrin is also expressed in the retina and hyaloid vessels although its function in these tissues is unknown. The first goal of this project is to characterize the expression of agrin-CFP in the developing eye as well as cataloging the types and initiation of various developmental defects. The second goal of this project, to map modifiers of anophthalmia and microphthalmia, takes advantage of the increased penetrance of these phenotypes in C57BL/6J mice. This work will increase understanding of how the eye develops and the role agrin plays in this process.

描述（由申请人提供）：自发性发生的眼睛和摩托感染性是在C57BL/6J小鼠中以1％至12％的频率自发发育的缺陷。最近产生的C57BL/6J小鼠的几种菌株的发生率增加了这些缺陷的发生率，包括一条渗透率完整的线，但取决于遗传背景。这些小鼠携带多个与CFP融合的Agrin转基因的副本。 Agrin在神经肌肉结的发展中起关键作用。阿格林在视网膜和透明血管中也表达，尽管其在这些组织中的功能尚不清楚。该项目的第一个目标是表征在发育中的眼睛中Agrin-CFP的表达，以及分类各种发育缺陷的类型和启动。该项目的第二个目标是绘制摩天哲和微观恐怖的修饰符，利用了这些表型在C57BL/6J小鼠中的渗透率增加。这项工作将提高人们对眼睛的发展方式以及阿格林在此过程中所扮演的角色的理解。