Phenotype Characterization of a Mice Genetic Model of Absolute Blindness
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, <i>Opn4</i><sup>−/−</sup> × <i>Pde6b</i>...
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MDPI AG
2022-07-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/15/8152 |
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| author | Santiago Milla-Navarro Mateo Pazo-González Francisco Germain Pedro de la Villa |
| author_facet | Santiago Milla-Navarro Mateo Pazo-González Francisco Germain Pedro de la Villa |
| author_sort | Santiago Milla-Navarro |
| collection | DOAJ |
| description | 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, <i>Opn4</i><sup>−/−</sup> × <i>Pde6b</i><sup>rd10/rd10</sup> (O×Rd) double mutant murine, is a combination of a mutation in the <i>Pde6b</i> gene (photoreceptor degeneration) together with a deletion of the <i>Opn4</i> 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. |
| first_indexed | 2024-03-09T10:08:42Z |
| format | Article |
| id | doaj.art-89b07ce8d0d24059a5e8a7ca7204e7f4 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T10:08:42Z |
| publishDate | 2022-07-01 |
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| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-89b07ce8d0d24059a5e8a7ca7204e7f42023-12-01T22:56:58ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-07-012315815210.3390/ijms23158152Phenotype Characterization of a Mice Genetic Model of Absolute BlindnessSantiago Milla-Navarro0Mateo Pazo-González1Francisco Germain2Pedro de la Villa3Department of Systems Biology, University of Alcala, 28801 Madrid, SpainDepartment of Systems Biology, University of Alcala, 28801 Madrid, SpainDepartment of Systems Biology, University of Alcala, 28801 Madrid, SpainDepartment of Systems Biology, University of Alcala, 28801 Madrid, SpainRecent 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, <i>Opn4</i><sup>−/−</sup> × <i>Pde6b</i><sup>rd10/rd10</sup> (O×Rd) double mutant murine, is a combination of a mutation in the <i>Pde6b</i> gene (photoreceptor degeneration) together with a deletion of the <i>Opn4</i> 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.https://www.mdpi.com/1422-0067/23/15/8152murine modelblindnessphotosensitivity<i>Opn4</i><sup>−/−</sup><i>Pde6b<sup>rd10/rd10</sup></i> |
| spellingShingle | Santiago Milla-Navarro Mateo Pazo-González Francisco Germain Pedro de la Villa Phenotype Characterization of a Mice Genetic Model of Absolute Blindness International Journal of Molecular Sciences murine model blindness photosensitivity <i>Opn4</i><sup>−/−</sup> <i>Pde6b<sup>rd10/rd10</sup></i> |
| title | Phenotype Characterization of a Mice Genetic Model of Absolute Blindness |
| title_full | Phenotype Characterization of a Mice Genetic Model of Absolute Blindness |
| title_fullStr | Phenotype Characterization of a Mice Genetic Model of Absolute Blindness |
| title_full_unstemmed | Phenotype Characterization of a Mice Genetic Model of Absolute Blindness |
| title_short | Phenotype Characterization of a Mice Genetic Model of Absolute Blindness |
| title_sort | phenotype characterization of a mice genetic model of absolute blindness |
| topic | murine model blindness photosensitivity <i>Opn4</i><sup>−/−</sup> <i>Pde6b<sup>rd10/rd10</sup></i> |
| url | https://www.mdpi.com/1422-0067/23/15/8152 |
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