Pattern of retinal morphological and functional decay in a light-inducible, rhodopsin mutant mouse

Abstract Hallmarks of Retinitis Pigmentosa (RP), a family of genetic diseases, are a typical rod-cone-degeneration with initial night blindness and loss of peripheral vision, followed by decreased daylight sight and progressive visual acuity loss up to legal blindness. Great heterogeneity in nature...

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Autores principales:	Claudia Gargini, Elena Novelli, Ilaria Piano, Martina Biagioni, Enrica Strettoi
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/3508d26868994ba39d4081781f0b86d3
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spelling	oai:doaj.org-article:3508d26868994ba39d4081781f0b86d32021-12-02T11:52:24ZPattern of retinal morphological and functional decay in a light-inducible, rhodopsin mutant mouse10.1038/s41598-017-06045-x2045-2322https://doaj.org/article/3508d26868994ba39d4081781f0b86d32017-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-06045-xhttps://doaj.org/toc/2045-2322Abstract Hallmarks of Retinitis Pigmentosa (RP), a family of genetic diseases, are a typical rod-cone-degeneration with initial night blindness and loss of peripheral vision, followed by decreased daylight sight and progressive visual acuity loss up to legal blindness. Great heterogeneity in nature and function of mutated genes, variety of mutations for each of them, variability in phenotypic appearance and transmission modality contribute to make RP a still incurable disease. Translational research relies on appropriate animal models mimicking the genetic and phenotypic diversity of the human pathology. Here, we provide a systematic, morphological and functional analysis of RhoTvrm4/Rho+ rhodopsin mutant mice, originally described in 2010 and portraying several features of common forms of autosomal dominant RP caused by gain-of-function mutations. These mice undergo photoreceptor degeneration only when exposed briefly to strong, white light and allow controlled timing of induction of rod and cone death, which therefore can be elicited in adult animals, as observed in human RP. The option to control severity and retinal extent of the phenotype by regulating intensity and duration of the inducing light opens possibilities to exploit this model for multiple experimental purposes. Altogether, the unique features of this mutant make it an excellent resource for retinal degeneration research.Claudia GarginiElena NovelliIlaria PianoMartina BiagioniEnrica StrettoiNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Claudia Gargini Elena Novelli Ilaria Piano Martina Biagioni Enrica Strettoi Pattern of retinal morphological and functional decay in a light-inducible, rhodopsin mutant mouse
description	Abstract Hallmarks of Retinitis Pigmentosa (RP), a family of genetic diseases, are a typical rod-cone-degeneration with initial night blindness and loss of peripheral vision, followed by decreased daylight sight and progressive visual acuity loss up to legal blindness. Great heterogeneity in nature and function of mutated genes, variety of mutations for each of them, variability in phenotypic appearance and transmission modality contribute to make RP a still incurable disease. Translational research relies on appropriate animal models mimicking the genetic and phenotypic diversity of the human pathology. Here, we provide a systematic, morphological and functional analysis of RhoTvrm4/Rho+ rhodopsin mutant mice, originally described in 2010 and portraying several features of common forms of autosomal dominant RP caused by gain-of-function mutations. These mice undergo photoreceptor degeneration only when exposed briefly to strong, white light and allow controlled timing of induction of rod and cone death, which therefore can be elicited in adult animals, as observed in human RP. The option to control severity and retinal extent of the phenotype by regulating intensity and duration of the inducing light opens possibilities to exploit this model for multiple experimental purposes. Altogether, the unique features of this mutant make it an excellent resource for retinal degeneration research.
format	article
author	Claudia Gargini Elena Novelli Ilaria Piano Martina Biagioni Enrica Strettoi
author_facet	Claudia Gargini Elena Novelli Ilaria Piano Martina Biagioni Enrica Strettoi
author_sort	Claudia Gargini
title	Pattern of retinal morphological and functional decay in a light-inducible, rhodopsin mutant mouse
title_short	Pattern of retinal morphological and functional decay in a light-inducible, rhodopsin mutant mouse
title_full	Pattern of retinal morphological and functional decay in a light-inducible, rhodopsin mutant mouse
title_fullStr	Pattern of retinal morphological and functional decay in a light-inducible, rhodopsin mutant mouse
title_full_unstemmed	Pattern of retinal morphological and functional decay in a light-inducible, rhodopsin mutant mouse
title_sort	pattern of retinal morphological and functional decay in a light-inducible, rhodopsin mutant mouse
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/3508d26868994ba39d4081781f0b86d3
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Pattern of retinal morphological and functional decay in a light-inducible, rhodopsin mutant mouse

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