New Retinal Degenerations in the Mouse
For many years we followed with great interest the comparative advances of genetics in the mouse[l] and in human.  Relative frequencies of dominant and recessive traits were similar, mapping of genes proceeded at similar rates, and comparative mapping produced surprises through the discovery of the large number and size of mouse and human homologous chromosomal segments retained since the separation of the species 65 million years ago. What was different between mouse and human was the relative frequency of genetic eye disorders, that is, they were relatively frequent in human, and rare in mouse. Recognizing this was because of bias in ascertainment, because mice do not refer themselves for visual diagnosis and treatment, we began a systematic program to find and characterize mouse eye disorders. The Jackson Laboratory, having the largest collection of mouse mutant stocks and genetically diverse inbred strains was an ideal place to look for genetically determined eye variations and disorders. We have not been disappointed. 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 cornea disorders, cataracts, retinal degenerations and glaucoma. Additional studies have shown predisposition to certain eye problems in aged mice of specific stocks or strains.
KeywordsRetinal Pigment Epithelium Outer Segment Photoreceptor Cell Retinal Degeneration Outer Nuclear Layer
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- 1.Mouse Locus Catalog, MLC of MGD, Mouse Genome Informatics Project, The Jackson Laboratory, Bar Harbor, ME, 1995 Worldwide Web (URL: http://www.informatics.jax.org/).Google Scholar
- 2.McKusick, V.A., 1995. Online Mendelian Inheritance in Man. World Wide Web (http://www.gdbwww.gdb.org/omim/omimq/1).
- 7.Sidman, R.L., and Green, M.C., 1970. “ Nervous,” a new mutant mouse with cerebellar disease. In: M Sabourdy, ed. Les Mutants Pathologiques Chez l’ Animal. Paris: Centre National de la Recherche Scientifique, pp.69–79.Google Scholar
- 10.MATRIX, Mouse Genome Database, Mouse Genome Informatics Project, The Jackson Laboratory, Bar Harbor, ME., 1995 World Wide Web (URL: http: //www.informatics.jax.org/).Google Scholar
- 11.Bateman, B., Klisak, I., Kojis, T., Mohandas, T., Sparkes, R.S., Li, T., Applebury, M.L., Bowes, C., and Farber, D.B., 1992. Assignment of the ß-subunit of rod photoreceptor cGMP phosphodiesterase gene PDEB (homolog of the mouse rd gene) to human chromosome 4p16. Genomics 12: 601–603.PubMedCrossRefGoogle Scholar
- 12.Danciger, M., Bowes, C., Kozak, C.A., Lavail, M., and Farber, D.B., 1990. Fine mapping of a putative rd cDNA and its cosegregation with rd expression. Invest. Ophthalmol. & Vis. Sci. (Suppl.) 31: 1427–1432.Google Scholar
- 23.Chang, B., Bronson, R.T, Hawes, N.L., Roderick, T.H., Peng, C., Hageman, G.S., and Heckenlively, J.R., 1994. A retinal degeneration in motor neuron degeneration: A mouse model of ceroid lipofuscinosis. Investigative Ophthal. & Vis. Sci. 35: 1071–1076.Google Scholar
- 24.Hillyard, A.L., Davisson, M.T., Doolittle, D.P., Guidi, J.N., Maltais, L.J., and Roderick, T.H., 1993. Locus map of mouse (Mus musculus/domesticus). In: Genetic Maps, Nonhuman Vertebrates, Book 4, pp. 4.110-4.142. 6th Edit., Ed. S.J. O’ Brien. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.Google Scholar
- 26.Linberg, K.A., Fariss, R.N., Heckenlively, J.R, Peng, C., Bowes, C., Farber, D.B., and Fisher, S.K., 1994. Structural changes in the developing retina of the rd-3 mouse. Investigative Ophthalmology & Vis.Sci., 35(4): 1610.Google Scholar
- 27.Heckenlively, J.R., Chang, B., Hawes, N.L., and Roderick, T.H., 1992. Two new mouse retinal primary degenerations. Investigative Ophthalmol & Vis. Sci. 33(4): 1063.Google Scholar
- 28.Roderick, T.H., Chang, B., Hawes, N.L., and Heckenlively, J.R., 1996. A new dominant retinal degeneration (Rd4) associated with a chromosomal inversion in the mouse (in preparation).Google Scholar
- 29.Roderick, T.H., 1983. Using inversions to detect and study recessive lethals and detrimentals in mice, pp. 135–167. In: F.J deSerres, and W. Sheridan (eds.), Utilization of Mammalian Specific Locus Studies in Hazard Evaluation and Estimation of Genetic Risk. Plenum Publ. Corp.Google Scholar
- 30.Heckenlively, J.R., Chang, B., Peng, C., Erway, L.C., Hawes, N.L., Hageman, G.S., and Roderick, T.H., 1995. A mouse model (rd5) for Usher Syndrome; linkage mapping suggests homology to Usher Type I reported at human chromosome 11p15. Proc. Natl. Acad. Sci USA, (in press).Google Scholar