ArticleInvestigative ophthalmology & visual science2014
The Rpe65 rd12 allele exerts a semidominant negative effect on vision in mice.
Article in Investigative ophthalmology & visual science, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
16 citing papers in PubMed, 16 citations in OpenAlex.
- Pathogenicity and Functional Analysis of Multi-Variant Allele of RPE65 Causing Retinitis Pigmentosa.Translational vision science & technology · 2026Article
- AAV-delivered engineered suppressor tRNA rescues visual function in mice with an inherited retinal disease.Nature communications · 2025Article
- Animal models for the evaluation of retinal stem cell therapies.Progress in retinal and eye research · 2025Review
- Predicting potentially pathogenic effects ofJournal of enzyme inhibition and medicinal chemistry · 2022Article
- Retinal pigment epithelium 65 kDa protein (RPE65): An update.Progress in retinal and eye research · 2022Review
- Review
- Measuring vision using innate behaviours in mice with intact and impaired retina function.Scientific reports · 2019Article
- Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation.Human mutation · 2019Article
- Wheel running exercise protects against retinal degeneration in the I307N rhodopsin mouse model of inducible autosomal dominant retinitis pigmentosa.Molecular vision · 2019Article
- Clinical applications of retinal gene therapies.Precision clinical medicine · 2018Review
- Xanthohumol Protects Morphology and Function in a Mouse Model of Retinal Degeneration.Investigative ophthalmology & visual science · 2018Article
- IRBP deficiency permits precocious ocular development and myopia.Molecular vision · 2016Article
- Circadian and light-driven regulation of rod dark adaptation.Scientific reports · 2015Article
- Psychophysical testing in rodent models of glaucomatous optic neuropathy.Experimental eye research · 2015Review
- Visual Cone Arrestin 4 Contributes to Visual Function and Cone Health.Investigative ophthalmology & visual science · 2015Article
- Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites.The Journal of biological chemistry · 2014Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
purposeThe rd12 mouse was reported as a recessively inherited Rpe65 mutation. We asked if the rd12 mutation resides in Rpe65 and how the mutation manifests itself.
methodsA complementation test was performed by mating Rpe65(KO) (KO/KO) and rd12 mice together to determine if the rd12 mutation is in the Rpe65 gene. Visual function of wild-type (+/+), KO/+, rd12/+, KO/KO, rd12/rd12, and KO/rd12 mice was measured by optokinetic tracking (OKT) and ERG. Morphology was assessed by retinal cross section. qRT-PCR quantified Rpe65 mRNA levels. Immunoblotting measured the size and level of RPE65 protein. Rpe65 mRNA localization was visualized with RNA fluorescence in situ hybridization (FISH). Fractions of Rpe65 mRNA-bound proteins were separated by linear sucrose gradient fractionation.
resultsThe KO and rd12 alleles did not complement. The rd12 allele induced a negative semidominant effect on visual function; OKT responses became undetectable 120 days earlier in rd12/rd12 mice compared with KO/KO mice. rd12/+ mice lost approximately 21% visual acuity by P210. rd12/rd12 mice had fewer cone photoreceptor nuclei than KO/KO mice at P60. rd12/rd12 mice expressed 71% +/+ levels of Rpe65 mRNA, but protein was undetectable. Mutant mRNA was appropriately spliced, exported to the cytoplasm, trafficked, and contained no other coding mutation aside from the known nonsense mutation. Mutant mRNA was enriched on ribosome-free messenger ribonucleoproteins (mRNPs), whereas wild-type mRNA was enriched on actively translating polyribosomes.
conclusionsThe rd12 lesion is in Rpe65. The rd12 mutant phenotype inherits in a semidominant manner. The effects of the mutant mRNA on visual function may result from inefficient binding to ribosomes for translation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.