Transcriptome dataset of light-dependent expression in the early onset retinal degeneration model, Mcoln1^-/- mouse.

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 clini

SUBMITTER: Cistulli R 

PROVIDER: S-EPMC10630596 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature