Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure |
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| Authors: | Bo Chang Richard S Smith Maureen Peters Olga V Savinova Norman L Hawes Adriana Zabaleta Steven Nusinowitz Janice E Martin Muriel L Davisson Constance L Cepko Brigid LM Hogan Simon WM John |
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| Affiliation: | (1) The Howard Hughes Medical Institute, Bar Harbor, Maine, USA;(2) The Jackson Laboratory, Bar Harbor, Maine, USA;(3) The Jules Stein Eye Institute, Los Angeles, California, USA;(4) The Department of Ophthalmology, Tufts University College of Medicine, Boston, Massachusetts, USA |
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| Abstract: | Background Glaucoma is a common disease but its molecular etiology is poorly understood. It involves retinal ganglion cell death and optic nerve damage that is often associated with elevated intraocular pressure. Identifying genes that modify glaucoma associated phenotypes is likely to provide insights to mechanisms of glaucoma. We previously reported glaucoma in DBA/2J mice caused by recessive alleles at two loci, isa and ipd, that cause iris stromal atrophy and iris pigment dispersion, respectively. A approach for identifying modifier genes is to study the effects of specific mutations in different mouse strains. When the phenotypic effect of a mutation is modified upon its introduction into a new strain, crosses between the parental strains can be used to identify modifier genes. The purpose of this study was to determine if the effects of the DBA/2J derived isa and ipd loci are modified in strain AKXD-28/Ty. |
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