TITLE

A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene

PUB. DATE
January 2011
SOURCE
BMC Genetics;2011, Vol. 12 Issue 1, p91
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
The article presents a study conducted to establish the swh rat as the first rat model of hypohidrotic ectodermal dysplasia (HED) and successfully identifying the swh mutation. HED is a congenital disorder characterized by sparse hair, oligodontia, and inability to sweat. The swh/swh rat showed sparse hair, abnormal morphology of teeth, and absence of sweat glands. The study suggests that swh is a loss-of-function mutation in the rat Edaradd.
ACCESSION #
67052773

 

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