TRANSGENIC MODELS OF CRANIOFACIAL DEVELOPMENT DISORDERS

该项目的主要目的是创造小鼠基因突变体的基因 可能在颅面发育中起作用， 与人类颅面缺陷的病因学有关。 基因（H6， LD71）已从人胚胎颅面特异性 文库（项目3），其他基因正在通过遗传学方法分离 联系分析（项目2）。 我们将创建两个功能丧失（基因 基因敲除）和功能获得（胚胎异位表达）遗传 使用转基因技术在小鼠中进行突变。 这些实验将 直接证明了这些基因在颅面 开发以及提供人类疾病的小鼠模型。 我们将 还确定了这些基因的DNA调控区域， 使用LacZ在胚胎发生期间其颅面特异性表达 基因作为转基因小鼠的标记。

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.