Agrin promotes anophthalmia and microphthalmia

描述(由申请人提供)：无眼症和小眼症是眼睛发育中的缺陷，在C57BL/6J小鼠中自发发生的频率为1%至12%。最近产生的几个C57BL/6J小鼠品系的这些缺陷的发生率增加，其中包括一个外显完全的品系，但依赖于遗传背景。这些小鼠携带融合到CFP的agrin转基因的多个副本。AGIN在神经肌肉接头的发育中起着关键作用。AGRIN也在视网膜和玻璃体血管中表达，尽管它在这些组织中的功能尚不清楚。这个项目的第一个目标是表征agrin-CFP在发育眼中的表达，以及分类各种发育缺陷的类型和起始。该项目的第二个目标是定位无眼症和小眼球症的修饰基因，利用这些表型在C57BL/6J小鼠中增加的外显率。这项工作将增加对眼睛如何发育以及集聚蛋白在这一过程中所扮演的角色的理解。

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.