Correction: Genetic Variations Strongly Influence Phenotypic Outcome in the Mouse Retina

Abstract

Variation in genetic background can significantly influence the phenotypic outcome of both disease and non-disease associated traits. Additionally, differences in temporal and strain specific gene expression can also contribute to phenotypes in the mammalian retina. This is the first report of microarray based cross-strain analysis of gene expression in the retina investigating genetic background effects. Microarray analyses were performed on retinas from the following mouse strains: C57BL6/J, AKR/J, CAST/EiJ, and NOD.NON-H2 -nb1 at embryonic day 18.5 (E18.5) and postnatal day 30.5 (P30.5). Over 3000 differentially expressed genes were identified between strains and developmental stages. Differential gene expression was confirmed by qRT-PCR, Western blot, and immunohistochemistry. Three major gene networks were identified that function to regulate retinal or photoreceptor development, visual perception, cellular transport, and signal transduction. Many of the genes in these networks are implicated in retinal diseases such as bradyopsia, night-blindness, and cone-rod dystrophy. Our analysis revealed strain specific variations in cone photoreceptor cell patterning and retinal function. This study highlights the substantial impact of genetic background on both development and function of the retina and the level of gene expression differences tolerated for normal retinal function. These strain specific genetic variations may also be present in other tissues. In addition, this study will provide valuable insight for the development of more accurate models for human retinal diseases.

Probing Photoreceptor Outer Segment Phagocytosis by the RPE In Vivo: Models and Methodologies

“…In many cases, phenotypic variation among strains can be advantageous, allowing for models that mimic a wide array of human diseases. Over 3000 differentially expressed genes were identified between strains and developmental stages, including those part of major gene networks involved in regulating retinal or photoreceptor detachment, visual perception, and signal transduction [ 50 ]. Indeed, the genetic background of mice has been implicated in differences observed in light-induced photoreceptor cell death, injury-induced ganglion cell death, angiogenesis, lymphogenesis, and photoreceptor cell death following retinal detachment [ 51 , 52 , 53 , 54 , 55 ].…”