Darling S M, Abbott C M
MRC Mammalian Development Unit, London, UK.
Bioessays. 1992 Jun;14(6):359-66. doi: 10.1002/bies.950140602.
Mouse models of human genetic disorders provide a valuable resource for investigating the pathogenesis of genetic disease and for testing potential therapies. The high degree of resolution of linkage mapping in the mouse allows mutant phenotypes to be mapped precisely which, combined with the accurate definition of areas of homology between the mouse and human genomes, greatly facilitates the identification of mouse models. We describe here mouse models of human single gene disorders dividing them into three categories depending on the information available; phenotypic similarities, comparative mapping and identification of the underlying genetic lesion.
人类遗传疾病的小鼠模型为研究遗传疾病的发病机制和测试潜在疗法提供了宝贵资源。小鼠连锁图谱的高分辨率使得突变表型能够被精确绘制，再结合小鼠和人类基因组之间同源区域的准确定义，极大地促进了小鼠模型的识别。我们在此描述人类单基因疾病的小鼠模型，根据可用信息将它们分为三类：表型相似性、比较图谱和潜在遗传损伤的识别。
