Mouse models of human diseases help identify gene defects.
Objective:
The methods of homozygosity mapping and mouse/human homology to identify genes are reviewed. The genotype/phenotype correlation in two clinical entities with mutations in the human hairless gene are discussed.
Methods:
The example of the hairless mouse's contribution to our knowledge of hereditary alopecia is used, and the utility of consanguineous families for genetic studies is highlighted.
Results:
Mutations in the human homolog of the mouse hairless gene lead to congenital alopecia universalis and atrichia with papules.
Conclusion:
A mouse model of congenital alopecia has led to understanding the molecular basis of at least one type of severe human alopecia.
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