TRANSGENIC MODELS OF CRANIOFACIAL DEVELOPMENT DISORDERS

这个项目的主要目标是创造小鼠的基因突变。 它可能在颅面发育中起作用，而且可能 参与人类头面部缺陷的病因学研究。基因(H6， LD71)是从人类胚胎颅面部特异性组织中分离出来的 文库(项目3)，以及其他基因正在通过基因分离 连锁分析(项目2)。我们将创造两种功能丧失(基因 基因敲除)和功能获得(胚胎异位表达)遗传 利用转基因技术使小鼠发生突变。这些实验将 为这些基因在头面部所起的作用提供直接证据 开发以及提供人类疾病的小鼠模型。我们会 还要确定这些基因的DNA调节区，这些基因控制着 它们在LacZ胚胎发育过程中的头面部特异性表达 基因作为转基因小鼠的标志物。

The major aim of this project is to create mouse genetic mutants for genes which likely play a role in craniofacial development and which may be involved in the etiology of human craniofacial defects. The genes (H6, LD71) have been isolated from a human embryonic craniofacial-specific library (Project 3), and additional genes are being isolated by genetic linkage analysis (Project 2). We will create both loss-of-function (gene knock-out) and gain-of-function (embryonic ectopic expression) genetic mutations in mice using transgenic technologies. These experiments will give direct evidence for the role these genes play in craniofacial development as well as providing mouse models of human disorders. We will also identify the DNA regulatory regions of these genes which control their craniofacial-specific expression during embryogenesis using the LacZ gene as a marker in transgenic mice.