Article
A Novel C-Terminal Mutation in Gsdma3 (C+/H-) Leads to Alopecia and Corneal Inflammatory Response in Mice.
Investigative ophthalmology & visual science - 1 Jan 2018
Swirski Sebastian, Röger Carsten, Pienkowska-Schelling Aldona, Ihlenburg Cynthia, Fischer Gösta, May Oliver, Vorm Mariann, Owczarek-Lipska Marta, Neidhardt John
Abstract excerpt
Purpose: Mutations in the gene encoding Gasdermin A3 (Gsdma3) have been described to cause severe skin phenotypes, including loss of sebaceous glands and alopecia, in mice. We discovered a novel C-terminal mutation in Gsdma3 in a new mouse line and characterized a less frequently reported corneal phenotype, likely caused by degeneration of Meibomian glands of the inner eyelid. Methods: We used histologic methods...
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