ArticleInvestigative ophthalmology & visual science2009
The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background.
Article in Investigative ophthalmology & visual science, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 20 citations in OpenAlex.
- Compound dominant-null heterozygosity in a family withAmerican journal of ophthalmology case reports · 2022Article
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- The genetic dissection ofMolecular vision · 2018Article
- Genetic modifiers as relevant biological variables of eye disorders.Human molecular genetics · 2017Review
- Molecular basis for photoreceptor outer segment architecture.Progress in retinal and eye research · 2016Review
- Tyro3 Modulates Mertk-Associated Retinal Degeneration.PLoS genetics · 2015Article
- Genetic modifiers and oligogenic inheritance.Cold Spring Harbor perspectives in medicine · 2015Review
- Genetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis.Experimental eye research · 2014Article
- Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Cilia · 2012Article
- Inflammatory priming predisposes mice to age-related retinal degeneration.The Journal of clinical investigation · 2012Article
- Designing phenotyping studies for genetically engineered mice.Veterinary pathology · 2012Review
- Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype.PloS one · 2012Article
- The role of insulin-like growth factor-I in the physiopathology of hearing.Frontiers in molecular neuroscience · 2011Article
- Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2010Article
- Article
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3 authors at 1 institution in 1 country.
Funding
Abstract
purposeThe severity of disease in patients with retinitis pigmentosa (RP) can vary significantly, even among patients with the same primary mutations. It is hypothesized that modifier genes play important roles in determining the severity of RP, including the retinitis pigmentosa 1 (RP1) form of disease. To investigate the basis of variation in disease expression for RP1 disease, the authors generated congenic mice with a gene-targeted retinitis pigmentosa 1 homolog (Rp1h) allele (Rp1h(tm1Eap)) on several different genetic backgrounds and analyzed their retinal phenotypes.
methodsThe Rp1h(tm1Eap) allele was placed onto the C57BL/6J, DBA1/J, and A/J backgrounds. Retinal function of the resultant congenic mice was evaluated using electroretinographic analyses. Retinal structure and ultrastructure were evaluated using light and electron microscopy. Rp1h protein location was determined with immunofluorescence microscopy.
resultsAnalysis of the retinal phenotype of incipient congenic (N6) B6.129S-Rp1h(+/tm1Eap), DBA.129S(B6)-Rp1h(+/tm1Eap), and A.129S(B6)-Rp1h(+/tm1Eap) mice at 1 year of age showed retinal degeneration only in the A.129S(B6)-Rp1h(+/tm1Eap) mice. Further analyses revealed that the photoreceptors of the fully congenic A.129S(B6)-Rp1h(+/tm1Eap) mice show evidence of degeneration at 6 months of age and are almost completely lost by 18 months of age. In contrast, the photoreceptor cells in the fully congenic B6.129S-Rp1h(+/tm1Eap) mice remain healthy up to 18 months.
conclusionsThe severity of the retinal degeneration caused by the Rp1h(tm1Eap) allele is notably dependent on genetic background. The development and characterization of the B6.129S-Rp1h(+/tm1Eap) and A.129S(B6)-Rp1h(+/tm1Eap) congenic mouse lines will facilitate identification of sequence alterations in genes that modify the severity of RP1 disease.
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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.