Mouse Models of Human Variation and Disease

点击翻译按钮获取中文摘要

Laboratory mice are excellent models for the effects of human genetic mutations or variation. New methods now allow us to produce very precise changes in the DNA of mice, to mimic human genetic changes, and to see the effect on the biology of the mouse. This programme has two aspects. The first is to study the effects of genetic mutations on the eye, to understand why loss or change in a gene leads to faults in the retina and to effect on vision. The second aspect is to unravel the genetics of human hair colour. Although hair colour genetics is complicated (we have found more than 100 genes that are involved) it is much simpler than the genetics affecting many common diseases. Understanding hair colour genetics is a “halfway house” to a full understanding of these important disease genetics. In some cases we will introduce genetic changes into mice to see the effect on hair colour biology. In most cases we will use human cells grown in the laboratory and produce changes in them to measure the effect on the genes.