Ian J. Jackson (Emeritus)

Research in a Nutshell

In my research career I mostly studied mouse models of human disease and variation, in two areas. We generated mouse mutations and examined them for defects in vision and eye development. This led to numerous models informing on the function of genes in eye development and function. We identified novel genes, including Fam151b and Tmem98, as well as models for a range of human eye disorders.

The other strand of research studied the network of genes responsible for pigmentation of skin and hair. Years ago we identified a gene, Dct, necessary for the production of normal pigment. Recently this same gene was found mutated in patients with albinism. We modelled these human mutations in mice to demonstrate their loss of function. Some time ago we showed the red hair in humans was associated with variants in a gene, MC1R. Using UK Biobank we extended this to find more genes that are also involved in ref hair, plus a very large number of genes affecting blonde and brown hair.

Throughout my career I have been interested in the welfare of laboratory animals and I served on the Board of the National Centre for Replacement, Reduction and Refinement of Animals in Research. 

• Waltham Petcare Science Institute
• MRC Centre for Macaques