Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma inCol4a1Mutant Mice
Author(s) -
Mao Mao,
Richard S. Smith,
Marcel V. Alavi,
Jeffrey K. Marchant,
Mihai Cosma,
Richard T. Libby,
Simon W. M. John,
Douglas B. Gould
Publication year - 2015
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.15-17527
Subject(s) - dysgenesis , penetrance , context (archaeology) , glaucoma , mutant , optic nerve , biology , mutation , phenotype , genetics , retinal ganglion cell , ophthalmology , pathology , medicine , anatomy , gene , neuroscience , paleontology
Mutations in the gene encoding collagen type IV alpha 1 (COL4A1) cause multisystem disorders including anterior segment dysgenesis (ASD) and optic nerve hypoplasia. The penetrance and severity of individual phenotypes depends on genetic context. Here, we tested the effects of a Col4a1 mutation in two different genetic backgrounds to compare how genetic context influences ocular dysgenesis, IOP, and progression to glaucoma.
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