Skip to main content

A Novel C-Terminal Mutation in Gsdma3 (C+/H-) Leads to Alopecia and Corneal Inflammatory Response in Mice.

Author
Abstract
:

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.

Year of Publication
:
2018
Journal
:
Investigative ophthalmology & visual science
Volume
:
59
Issue
:
1
Number of Pages
:
561-571
Date Published
:
2018
ISSN Number
:
0146-0404
DOI
:
10.1167/iovs.17-22658
Short Title
:
Invest Ophthalmol Vis Sci
Download citation