MOUSE MODELS FOR GENETIC DISEASES

戈谢病（GD）是最常见的溶酶体贮积症。的 疾病是由溶酶体的遗传性功能缺陷引起的， 葡糖脑苷脂酶（GC）。目前，没有动物模型用于 戈谢病;具有戈谢病的啮齿动物模型将是有利的。 高雪氏病的进一步研究和治疗。的可用性 人类和小鼠GC基因的克隆提出了一种可能性， 转基因动物可以被开发出来， 并再现了戈谢病的病理并发症。的 该提案的长期目标是开发动物模型， 使用任何一种产生的转基因小鼠来研究各种人类遗传疾病 同源重组或导入反义cDNA构建体 进入小鼠生殖细胞。动物模型可用于评价 潜在的治疗方法，如基因治疗在自体 骨髓移植或同种异体骨髓移植。

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.