MOUSE MODELS FOR GENETIC DISEASES

高谢病(GD)是最常见的溶酶体储存障碍。这个 这种疾病是由遗传性溶酶体功能缺陷引起的。 葡萄糖脑苷酶(GC)。目前，尚无动物模型可供选择 高谢病；有一个啮齿动物模型将是有利的 高谢病的进一步研究和治疗。是否可以使用 用于GC的人和鼠基因的克隆表明， 可以开发出表现这种酶缺乏的转基因动物。 并复制了高谢病的病理并发症。这个 这项提议的长期目标是为 利用转基因小鼠产生的各种人类遗传病 引入同源重组或反义cdna构建 进入小鼠的生殖系。动物模型可以用来评估 治疗方法的潜力，如自体基因治疗 骨髓移植或异基因骨髓移植。

Gaucher disease (GD) is the most common lysosomal storage disorder. The disease is caused by an inherited functional deficiency of the lysosomal enzyme glucocerebrosidase (GC). Presently, there is no animal model for Gaucher disease; it would be advantageous to have a rodent model of Gaucher's disease to further its study and therapy. The availability of clones for the human and mouse genes for GC presents the possibility that a transgenic animal could be developed which manifests the enzyme deficiency and reproduces the pathologic complications of Gaucher disease. The long-term objective of this proposal is to develop animal models for a variety of human genetic diseases using transgenic mice produced by either homologous recombination or an antisense cDNA construct that are introduced into the mouse germline. The animal models could be used to evaluate the potential of therapeutic approaches, such as gene therapy in autologous bone marrow transplantation or allogeneic bone marrow transplantation.