Won Jungyeon, Shi Lan Ying, Hicks Wanda, Wang Jieping, Hurd Ronald, Naggert Jürgen K, Chang Bo, Nishina Patsy M
The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.
J Ophthalmol. 2011;2011:391384. doi: 10.1155/2011/391384. Epub 2010 Oct 31.
The need for mouse models, with their well-developed genetics and similarity to human physiology and anatomy, is clear and their central role in furthering our understanding of human disease is readily apparent in the literature. Mice carrying mutations that alter developmental pathways or cellular function provide model systems for analyzing defects in comparable human disorders and for testing therapeutic strategies. Mutant mice also provide reproducible, experimental systems for elucidating pathways of normal development and function. Two programs, the Eye Mutant Resource and the Translational Vision Research Models, focused on providing such models to the vision research community are described herein. Over 100 mutant lines from the Eye Mutant Resource and 60 mutant lines from the Translational Vision Research Models have been developed. The ocular diseases of the mutant lines include a wide range of phenotypes, including cataracts, retinal dysplasia and degeneration, and abnormal blood vessel formation. The mutations in disease genes have been mapped and in some cases identified by direct sequencing. Here, we report 3 novel alleles of Crx(tvrm65), Rp1(tvrm64), and Rpe65(tvrm148) as successful examples of the TVRM program, that closely resemble previously reported knockout models.
由于小鼠具有完善的遗传学以及与人类生理和解剖学的相似性,对其作为模型的需求是显而易见的,并且在文献中很容易看出它们在促进我们对人类疾病的理解方面的核心作用。携带改变发育途径或细胞功能的突变的小鼠为分析可比人类疾病中的缺陷以及测试治疗策略提供了模型系统。突变小鼠还为阐明正常发育和功能途径提供了可重复的实验系统。本文描述了两个项目,即眼突变资源项目和转化视觉研究模型项目,它们专注于为视觉研究界提供此类模型。已经开发了来自眼突变资源项目的100多个突变系和来自转化视觉研究模型项目的60个突变系。这些突变系的眼部疾病包括广泛的表型,如白内障、视网膜发育异常和退化以及异常血管形成。疾病基因中的突变已被定位,在某些情况下通过直接测序进行了鉴定。在这里,我们报告了Crx(tvrm65)、Rp1(tvrm64)和Rpe65(tvrm148)的3个新等位基因,作为TVRM项目的成功例子,它们与先前报道的基因敲除模型非常相似。