Characterisation of erythropoietic mutants identified in a forward genetic screen in mice.

小鼠正向遗传筛选中鉴定的红细胞生成突变体的表征。

• 批准号: nhmrc : 382900
• 负责人: A/Pr David Curtis
• 金额: $ 33.47万
• 依托单位: The University of Melbourne
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2006
• 资助国家: 澳大利亚
• 起止时间: 2006-01-01 至 2009-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/characterisation-erythropoietic-mutants-screen-mice/80946
• 关键词: Characterisation; erythropoietic; mutants; identified; forward

The human bone marrow is the pivotal organ in the replacement of the vast numbers of blood cells normally consumed each day. One of the cells regenerated by this organ are the red blood cells which are critical for the transport of oxygen to the tissues. This proposal uses genetically altered mice to identify genes that are critical for the production of normal red blood cells. Mice exposed to a chemical that induces random mutations in their genome are bred and pups with abnormal red blood cells are identified. The responsible genetic mutation is identified and the gene is then studied to determine how it influences red blood cell production. The results of these studies provide insights into a variety of human conditions including anemia, thalassemia and sickle cell disease.

人类骨髓是补充每天正常消耗的大量血细胞的关键器官。该器官再生的细胞之一是红细胞，它对于将氧气输送到组织至关重要。该提案使用基因改造的小鼠来识别对于正常红细胞的产生至关重要的基因。暴露于一种会引起基因组随机突变的化学物质的小鼠被饲养，并鉴定出红细胞异常的幼崽。确定了相关的基因突变，然后研究该基因以确定它如何影响红细胞的产生。这些研究的结果提供了对多种人类疾病的见解，包括贫血、地中海贫血和镰状细胞病。