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Excavating the Genome: Large Scale Mutagenesis Screening for the Discovery of New Mouse Models

机译:挖掘基因组:发现新的小鼠模型的大规模诱变筛选。

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摘要

Technology now exists for rapid screening of mutated laboratory mice to identify phenotypes associated with specific genetic mutations. Large repositories exist for spontaneous mutants and those induced by chemical mutagenesis, many of which have never been studied or comprehensively evaluated. To supplement these resources, a variety of techniques have been consolidated in an international effort to create mutations in all known protein coding genes in the mouse. With targeted embryonic stem cell lines now available for almost all protein coding genes and more recently CRISPR/Cas9 technology, large-scale efforts are underway to create novel mutant mouse strains and to characterize their phenotypes. However, accurate diagnosis of skin, hair, and nail diseases still relies on careful gross and histological analysis. While not automated to the level of the physiological phenotyping, histopathology provides the most direct and accurate diagnosis and correlation with human diseases. As a result of these efforts, many new mouse dermatological disease models are being developed.
机译:现在存在用于快速筛选突变实验室小鼠以鉴定与特定遗传突变相关的表型的技术。存在大量自发突变体和通过化学诱变诱导的突变体,其中许多尚未进行研究或全面评估。为了补充这些资源,国际上已经整合了多种技术,以在小鼠的所有已知蛋白质编码基因中产生突变。现在针对几乎所有蛋白质编码基因的靶向胚胎干细胞系以及最近的CRISPR / Cas9技术,正在进行大规模努力以创建新型突变小鼠品系并表征其表型。但是,皮肤,头发和指甲疾病的准确诊断仍然依赖于仔细的肉眼和组织学分析。组织病理学虽然不能自动化到生理表型的水平,但却可以提供最直接,最准确的诊断方法,并与人类疾病相关。由于这些努力,正在开发许多新的小鼠皮肤病疾病模型。

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