Agrin promotes anophthalmia and microphthalmia

Agrin 促进无眼症和小眼症

• 批准号: 6916359
• 负责人: PETER Gerard FUERST
• 金额: $ 4.83万
• 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/6916359
• 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）： 无眼症和小眼症是在 C57BL/6J 小鼠中自发发生的眼睛发育缺陷，发生频率为 1% 至 12%。最近产生的几种 C57BL/6J 小鼠品系的这些缺陷的发生率有所增加，其中包括一种外显率完全的品系，但取决于遗传背景。这些小鼠携带与 CFP 融合的集聚蛋白转基因的多个拷贝。 Agrin 在神经肌肉接头的发育中起着至关重要的作用。集聚蛋白也在视网膜和玻璃体血管中表达，尽管其在这些组织中的功能尚不清楚。该项目的首要目标是表征发育中眼睛中 agrin-CFP 的表达，并对各种发育缺陷的类型和起始进行分类。该项目的第二个目标是利用 C57BL/6J 小鼠中这些表型的外显率增加来绘制无眼症和小眼症的修饰因子。这项工作将增进人们对眼睛如何发育以及集聚蛋白在此过程中所扮演的角色的了解。