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Updated: Jul 9, 2025

A Protocol to Evaluate and Quantify Retinal Pigmented Epithelium Pathologies in Mouse Models of Age-Related Macular Degeneration
Published on: March 10, 2023
Transcriptome dataset of light-dependent expression in the early onset retinal degeneration model, Mcoln1 mouse
Rebecca Cistulli1, Jonathan G Miller1, Ray A Enke1
1James Madison University, Department of Biology, United States.
Abstract:
Retinal degenerative diseases (RDDs) are a diverse group of retinal disorders that cause visual impairment. While RDD prevalence is high, little is known about the molecular mechanisms underlying the pathogenesis within many of these disorders. Here we use transcriptome analysis to elucidate the molecular mechanisms that drive early onset photoreceptor neuron function loss in the mouse model of the RDD Mucolipidosis type IV (MLIV). MLIV is a lysosomal storage disorder resulting from loss of function mutations in the MCOLN1 gene. MCOLN1 encodes a lysosomal cation channel, the transient receptor potential channel mucolipin 1 (Trpml1). To identify changes in gene expression during onset in MLIV we used a genetic mouse model (Mcoln1) which recapitulates clinical attributes of the human disease. We conducted transcriptome analysis in 6-week old control and Mcoln1 mice under normal 12:12 light cycle as well as low and high light stress conditions. These data will be valuable to the vision research community for identifying differentially expressed in early onset MLIV potentially leading to new insights into the pathophysiology of this RDD. Raw FASTQ files and processed counts files for the RNA-seq libraries are deposited in the NCBI Sequence Read Archive (SRA) and have been assigned BioProject accession PRJNA1002601 [1].

