Retinal degeneration mutants in the mouse
Open accessAbstract
The Jackson Laboratory, having the world's largest collection of mouse mutant stocks and genetically diverse inbred strains, is an ideal place to look for genetically determined eye variations and disorders. Through ophthalmoscopy, electroretinography and histology, we have discovered disorders affecting all aspects of the eye including the lid, cornea, iris, lens and retina, resulting in corneal disorders, cataracts, glaucoma and retinal degenerations. Mouse models of retinal degeneration have been investigated for many years in the hope of understanding the causes of photoreceptor cell death. Sixteen naturally occurring mouse mutants that manifest degeneration of photoreceptors in the retina with preservation of all other retinal cell types have been found: retinal degeneration (formerly rd, identical with rodless retina, r, now Pde6b(rd1)); Purkinje cell degeneration (pcd); nervous (nr); retinal degeneration slow (rds, now Prph(Rd2)); retinal degeneration 3 (rd3); motor neuron degeneration (mnd); retinal degeneration 4 (Rd4); retinal degeneration 5 (rd5, now tub); vitiligo (vit, now Mitf(mi-vit)); retinal degeneration 6 (rd6); retinal degeneration 7 (rd7, now Nr2e3(rd7)); neuronal ceroid lipofuscinosis (nclf); retinal degeneration 8 (rd8); retinal degeneration 9 (Rd9); retinal degeneration 10 (rd10, now Pde6b(rd10)); and cone photoreceptor function loss (cpfl1). In this report, we first review the genotypes and phenotypes of these mutants and second, list the mouse strains that carry each mutation. We will also provide detailed information about the cpfl1 mutation. The phenotypic characteristics of cpfl1 mice are similar to those observed in patients with complete achromatopsia (ACHM2, OMIM 216900) and the cpfl1 mutation is the first naturally-arising mutation in mice to cause cone-specific photoreceptor function loss. cpfl1 mice may provide a model for congenital achromatopsia in humans.
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Several naturally occurring mouse strains have shown features of retinal degeneration.
“Several naturally occurring mouse strains have shown features of retinal degeneration”
From Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD) (2010) · cites this paper as Chang et al., 2002
Certain mouse models of retinal degeneration help provide insight into the molecular pathology of photoreceptor loss in AMD.
“certain mouse models of retinal degeneration help provide insight into the molecular pathology of photoreceptor loss in AMD”
From Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD) (2010) · cites this paper as Chang et al., 2002
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Self-citation
- Authors
- Chang, B., Hawes, N. L., Hurd, R. E., Davisson, M. T., Nusinowitz, S., & Heckenlively, J. R.
- Affiliations
- Jackson Laboratory (US)
- Harbor–UCLA Medical Center (US)
- Corresponding author
- Chang, B.
- ORCID
- Chang, B.
- Venue
- Vision Research
- Publisher
- Elsevier BV
- Published
- 2002-02
- Volume
- 42
- Issue
- 4
- Pages
- 517-525
- ISSN
- 0042-6989 (ISSN-L)
- OpenAlex
- W2012796647
- Cited by
- 840
- References
- 37
- Citations by year
- 2026: 29 · 2025: 47 · 2024: 25 · 2023: 49 · 2022: 50 · 2021: 44 · 2020: 57 · 2019: 45 · 2018: 39 · 2017: 40 · 2016: 34 · 2015: 35 · 2014: 45 · 2013: 32 · 2012: 36
- FWCI
- 7.53
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Vision Research (publishedVersion)
- PubMed (publishedVersion)
- The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
- Funders
- Foundation Fighting Blindness
- National Eye Institute (R01EY007758, EY 11996, EY07758, R01EY011996)
- National Cancer Institute (#CA34196, P30CA034196)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Connexins and lens biology
- Keywords
- retinal degeneration, mouse mutants, photoreceptor degeneration, achromatopsia, congenital achromatopsia, PDE6B, RD3, Purkinje cell degeneration, neuronal ceroid lipofuscinosis, vitiligo, MITF, NR2E3, motor neuron degeneration
- MeSH terms
- Animals, Electroretinography, Fundus Oculi, Mice, Mutant Strains, Retina, Retinal Degeneration, Rhodopsin, Apoptosis, Photoreceptor Cells, Vertebrate, Models, Animal, Mice
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