RNA-Seq of mouse eye and retina tissues from wild type and Nrl transcription factor knockout mice

ABSTRACT: The initial aim of this work was to understand the pathophysiology of Enhanced S-cone Syndrome (ESCS) that leads to retinal degeneration. Although ESCS was identified in humans decades ago and since then the causative genes have been elucidated, our understanding of the accompanying retinal degeneration is still poorly understood. Knockout of the Nrl transcription factor in mice produces a retina overpopulated with S-cone like photoreceptors along with absence of rod photoreceptors and recapitulates many of the phenotypic features seen in human ESCS patients. We wanted to study this murine model through a combinatorial genetic and structural approach to improve understanding of the disease process that leads to photoreceptor degeneration and blindness, potentially guiding future therapies.

ORGANISM(S): Mus musculus

SUBMITTER: Debarshi Mustafi 

PROVIDER: E-GEOD-29752 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress