Phenotype Characterization of a Mice Genetic Model of Absolute Blindness
Authors
Milla Navarro, Santiago; Pazo González, Mateo; Germain Martínez, Francisco José; Villa Polo, Pedro de laIdentifiers
Permanent link (URI): http://hdl.handle.net/10017/59283DOI: 10.3390/ijms23158152
ISSN: 1422-0067
Date
2022-07-24Bibliographic citation
International Journal of Molecular Sciences, 2022, v. 23, n. 15 (8152), p. 1-20
Keywords
murine model
blindness
photosensitivity
Opn4(-/-)
Pde6b(rd10/rd10)
Document type
info:eu-repo/semantics/article
Version
info:eu-repo/semantics/publishedVersion
Rights
© The Authors
Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)
Access rights
info:eu-repo/semantics/openAccess
Abstract
Recent technological development requires new approaches to address the problem of blindness. Such approaches need to be able to ensure that no cells with photosensitive capability remain in the retina. The presented model, Opn4(-/-) x Pde6b(rd10/rd10) (OxRd) double mutant murine, is a combination of a mutation in the Pde6b gene (photoreceptor degeneration) together with a deletion of the Opn4 gene (responsible for the expression of melanopsin in the intrinsically photosensitive retinal ganglion cells). This model has been characterized and compared with those of WT mice and murine animal models displaying both mutations separately. A total loss of pupillary reflex was observed. Likewise, behavioral tests demonstrated loss of rejection to illuminated spaces and a complete decrease in visual acuity (optomotor test). Functional recordings showed an absolute disappearance of various wave components of the full-field and pattern electroretinogram (fERG, pERG). Likewise, visual evoked potential (VEP) could not be recorded. Immunohistochemical staining showed marked degeneration of the outer retinal layers and the absence of melanopsin staining. The combination of both mutations has generated an animal model that does not show any photosensitive element in its retina. This model is a potential tool for the study of new ophthalmological approaches such as optosensitive agents.
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Phenotype_Milla_IntJMolSci_2022.pdf | 3.251Mb |
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