International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


Van Agtmael T
MRC Human Genetics Unit, Western General Hospital, Edinburgh UK

Co-Authors: McKie L, West K, Cross S, Jackson I J
Institutions: MRC Human Genetics Unit, Western General Hospital, Edinburgh UK

Human cardiovascular disease is the leading cause of death in Western society. The characterisation of mouse models for cardiovascular disease will aid in the identification of novel genes and the pathways through which these genes exert their function. ENU mutagenesis is a very effective way of generating mouse models for complex human diseases as it causes single base pair changes which may accurately reflect causative human mutations responsible for these traits.

As part of a large ENU mutagenesis screen for eye phenotypes, a mutant, Raw, was identified which may be a model for human cardiovascular disease. Raw (retinal arteriolar wiring) is characterised by a silvery appearance to the arterioles in the retina. Possibly, the primary defect is the observed decrease in the level of HDL cholesterol and increased blood triglyceride levels. Raw has been mapped to the most proximal part of chromosome 8 where it co-localises with another ENU induced mouse mutant Svc (small with vacuolar cataracts) which is characterised by small size, vacuolar cataracts and some arteriolar silvering. The overlap in phenotypes and map locations of Svc and Raw suggest they may be allelic variants. We will present phenotypic and mapping data of these two mutants combined with mutational analysis of the candidate region. Data will also be presented on a third mutant Bruised, which shows a similar phenotype to Svc and is caused by a chromosomal rearrangement of the same genomic region.

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