The gene causing anhidrotic ectodermal dysplasia, the most common form of ectodermal dysplasias was cloned recently (Kere et al, 1996). This X-chromosomal gene encodes a novel cell surface molecule, but its function is so far unknown. EDA is characterized by defective development of epithelial appendages, notably teeth hair and sweat glands. The tooth phenotype varies extending from complete lack of teeth (anodontia) to a few missing teeth, and the development of the remaining teeth may be aberrant (e.g. conical shapes).

Tabby is a natural mouse mutation that has long been believed to be the mouse homologue of human EDA. Teeth, hair and a multitude of exocrine glands are affected in the Tabby mouse and the phenotype varies according to the mouse strain.

Jackson Mouse Genome Database Transgene Database OMIM

Text last edited 09.10.2003 by P.N. , page last created 10.12.2004 by P.N.