Bulk RNA-seq analysis of developing ocular anterior segments from wildtype and Col4a1 mutant mice

COL4A1 mutations cause Gould syndrome, a multi-system disorder which is characterized by a broad range of cerebrovascular, ocular, muscular, renal, or cardiac manifestations. To investigate the patheogenic mechanism of Col4a1 mutations in ocular anterior segment dysgenesis, we used a Col4a1 mutant mouse model that recapitulate many aspects of the pathophysiological hallmarks of Gould syndrome including anterior segment dysgenesis. We then isolated developing anterior segments from wildtype and mutant mice and performed differntial expression analysis using bulk RNAseq. Anterior segments (cornea, iris, ciliary body and ocular drainage structures) were dissected from P0 Col4a1+/+ (wildtype) and Col4a1+/G1344D (mutant) eyes and comparative gene expression profiling analysis were performed.