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Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

1
The Jackson Laboratory, Bar Harbor, Maine, ME 04609, USA
2
Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
3
Siriraj Center of Excellence for Stem Cell Research, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
*
Authors to whom correspondence should be addressed.
These authors contributed equally to this work.
Cells 2020, 9(4), 931; https://doi.org/10.3390/cells9040931
Received: 29 February 2020 / Revised: 5 April 2020 / Accepted: 7 April 2020 / Published: 10 April 2020
(This article belongs to the Special Issue The Molecular and Cellular Basis of Retinal Diseases)
Inherited retinal degeneration (RD) leads to the impairment or loss of vision in millions of individuals worldwide, most frequently due to the loss of photoreceptor (PR) cells. Animal models, particularly the laboratory mouse, have been used to understand the pathogenic mechanisms that underlie PR cell loss and to explore therapies that may prevent, delay, or reverse RD. Here, we reviewed entries in the Mouse Genome Informatics and PubMed databases to compile a comprehensive list of monogenic mouse models in which PR cell loss is demonstrated. The progression of PR cell loss with postnatal age was documented in mutant alleles of genes grouped by biological function. As anticipated, a wide range in the onset and rate of cell loss was observed among the reported models. The analysis underscored relationships between RD genes and ciliary function, transcription-coupled DNA damage repair, and cellular chloride homeostasis. Comparing the mouse gene list to human RD genes identified in the RetNet database revealed that mouse models are available for 40% of the known human diseases, suggesting opportunities for future research. This work may provide insight into the molecular players and pathways through which PR degenerative disease occurs and may be useful for planning translational studies. View Full-Text
Keywords: visual photoreceptor cell loss; mouse genetic models; retinitis pigmentosa; Leber congenital amaurosis; ciliopathies visual photoreceptor cell loss; mouse genetic models; retinitis pigmentosa; Leber congenital amaurosis; ciliopathies
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MDPI and ACS Style

Collin, G.B.; Gogna, N.; Chang, B.; Damkham, N.; Pinkney, J.; Hyde, L.F.; Stone, L.; Naggert, J.K.; Nishina, P.M.; Krebs, M.P. Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells 2020, 9, 931. https://doi.org/10.3390/cells9040931

AMA Style

Collin GB, Gogna N, Chang B, Damkham N, Pinkney J, Hyde LF, Stone L, Naggert JK, Nishina PM, Krebs MP. Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells. 2020; 9(4):931. https://doi.org/10.3390/cells9040931

Chicago/Turabian Style

Collin, Gayle B., Navdeep Gogna, Bo Chang, Nattaya Damkham, Jai Pinkney, Lillian F. Hyde, Lisa Stone, Jürgen K. Naggert, Patsy M. Nishina, and Mark P. Krebs. 2020. "Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss" Cells 9, no. 4: 931. https://doi.org/10.3390/cells9040931

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