MOUSE MODELS FOR GENETIC DISEASES

遗传疾病小鼠模型

• 批准号: 3086530
• 负责人: Leonard Stanley Sender
• 金额: $ 8.68万
• 依托单位: UNIVERSITY OF LOUISVILLE
• 依托单位国家: 美国
• 财政年份: 1990
• 资助国家: 美国
• 起止时间: 1990-08-01 至 1995-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3086530
• 关键词: Gaucher's disease; antisense nucleic acid; bone marrow transplantation; disease /disorder model; electroporation; gene expression; gene therapy; genes; genetic disorder; genetic manipulation; genetic recombination; genetically modified animals; glucosylceramidase; laboratory mouse; microinjections; model design /development; transposon /insertion element

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.

Gaucher病（GD）是最常见的溶酶体储存障碍。这 疾病是由溶酶体的遗传功能缺乏引起的 酶葡萄糖粥样酶（GC）。目前，没有动物模型 高彻病；拥有一个啮齿动物模型将是有利的 Gaucher病以进一步进行研究和治疗。可用性 GC人类和小鼠基因的克隆表明了一种可能性 可以开发出表现酶缺乏的转基因动物 并重现高彻病的病理并发症。这 该建议的长期目标是开发动物模型 使用两种人产生的转基因小鼠的各种人遗传疾病 引入的同源重组或反义cDNA构建体 进入小鼠种系。动物模型可用于评估 治疗方法的潜力，例如自体内基因治疗 骨髓移植或同种异体骨髓移植。