Article
Mutation in Bmpr1b Leads to Optic Disc Coloboma and Ventral Retinal Gliosis in Mice.
Investigative ophthalmology & visual science - 7 Feb 2020
Yan Xiaohe, Atorf Jenny, Ramos David, Thiele Frank, Weber Susanne, Dalke Claudia, Sun Minxuan, Puk Oliver, Michel Dian, Fuchs Helmut, Klaften Matthias, Przemeck Gerhard K H, Sabrautzki Sibylle, Favor Jack, Ruberte Jesús, Kremers Jan, de Angelis Martin Hrabe, Graw Jochen
Abstract excerpt
Purpose: The clinical phenotype of retinal gliosis occurs in different forms; here, we characterize one novel genetic feature, (i.e., signaling via BMP-receptor 1b). Methods: Mouse mutants were generated within a recessive ENU mutagenesis screen; the underlying mutation was identified by linkage analysis and Sanger sequencing. The eye phenotype was characterized by fundoscopy, optical coherence tomography,...
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