Abstract
Retinal degeneration slow (rds)is a neurological mutation of mice that is characterized phenotypically by abnormal development of rod and cone photoreceptors, followed by their slow degeneration. No other cell types in the retina or the CNS are affected. In rds/rds homozygotes, the retina undergoes entirely normal development and differentiation of cells until the first postnatal week, the time at which photoreceptor outer segments normally appear. While other retinal cells continue their normal development, the photoreceptors fail to elaborate outer segments and rarely form outer segment discs (1). The photoreceptor inner segments, however, including the ciliary processes, are morphologically normal. The synaptic termini of photoreceptors with second-order retinal neurons also appear normal in these mutants.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Similar content being viewed by others
References
Sanyal S., Chader G. and Aguirre G. Expression of retinal degeneration slow (rds) gene in retinal of the mouse. In “Retinal Degeneration: Experimental and Clinical Studies,” (New York: Alan R. Liss, Inc.) pp 239–256 (1985).
Hawkins R.K., Jansen H.G. and Sanyal S. Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in the heterozygotes. Exp. Eye Res. 41: 701–720 (1985).
Sanyal, S. and Zeilmaker, G.H. Development and degeneration of retina in rds mutant mice: light and electron microscopic observations in experimental chimeras. Exp. Eye Res. 39: 231–246 (1984).
Sanyal, S., Dees, C. and Zeilmaker, G.H. Development and degeneration of retina in rds mutant mice: observations in chimeras of heterozygous mutant and normal genotype. J. Embryol. exp. Morph. 98: 111–121 (1986).
Travis G.H. and Sutcliffe J.G. Phenol emulsion-enhanced DNA-driven subtractive cDNA cloning: isolation of low-abundance monkey cortex-specific mRNAs. Proc. Natl. Acad. Sci. USA 85: 1696–1700 (1988).
Travis G.H., Brennan M.B., Danielson P.E., Kozak C.A. and Sutcliffe J.G. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature 338: 70–73 (1989).
Carter-Dawson, L.D., LaVail, M.M. and Sidman, R.L. (1978) Differential effect of the rd mutation on rods and cones in the mouse retina. Invest. Ophthalmol. Visual Sci. 17: 489–498 (1978).
Travis G.H., Groshan K.R., Lloyd M. and Bok D. (1992) Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice. Neuron 9, 113–119.
Hawkins R.K., Jansen H.G. and Sanyal S. Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in the heterozygotes. Exp. Eye Res. 41: 701–720 (1985).
Arikawa, K., Molday, L.L., Molday, R.S., Williams, D.S. Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration. J. Cell Biol. 116: 659–667 (1992).
Lem J., Applebury M.L., Falk J.D., Flannery J.G. and Simon M.I. Tissue-specific and developmental regulation of rod opsin chimeric genes in transgenic mice. Neuron 6: 201–210 (1991).
Zack D.J., Bennett J., Wang Y., Davenport C., Klaunberg B., Gearhart J. and Nathans J. Unusual topography of bovine rhodopsin promoter-lacZ fusion gene expression in transgenic mouse retinas. Neuron 6: 187–199 (1991).
Flannery J.G., Farber D.B., Bird A.C. and Bok D. Degenerative changes in a retina affected with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 30: 191–211 (1989).
Travis G.H., Christerson L., Danielson P.E., Klisak I., Sparkes R.S., Hahn L.B., Dryja T.P., Sutcliffe J.G. The human retinal degeneration slow (rds) gene: Chromosome assignment and structure of the mRNA. Genomics 10: 733–739 (1991).
Farrar, G.J., Kenna, P., Jordan, S.A., Kurar-Singh, R., Humphries, M.M., Sharp, E.M., Sheils, D.M., Humphries, P. A three-base-pair deletion in the peripherinRDS gene in one form of retinitis pigmentosa. Nature 354: 478–480 (1991).
Kajiwara, K., Mukai, S., Travis, G.H., Berson, E.L. and Dryja, T.P. Mutations in the human retinal degeneration slow gene (RDS) in autosomal dominant retinitis pigmentosa. Nature 354: 480–483 (1991).
Rüther, U. and Müller-Hill, B. Easy identification of cDNA clones. The EMBO Journal 2: 1791–1794 (1983).
Travis G.H., Sutcliffe J.G. and Bok D. The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein. Neuron 6: 6170 (1991).
Connell, G., Bascom, R., Molday, L., Reid, D., McInnes, R.R., and Molday, R.S. Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc. Natl. Acad. Sci. USA 88: 723–726 (1991).
Bascom, R.A., Manara, S. Collins, L., Molday, R.S., Kalnins V.I. and McInnes, R.R. Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. Neuron 8: 1171–1184 (1992).
Nir, I. and Papermaster, D.S. Immunocytochemical localization of opsin in the inner segment and ciliary plasma membrane of photoreceptors in retinas of rds mutant mice. Invest. Ophthalmol. Vis. Sci. 27: 836–840 (1986).
Usukura, J. and Bok, D. Changes in the localization and content of opsin during retinal development in the rds mutant mouse: immunocytochemistry and immunoassay. Erp. Eye Res. 45: 501–515 (1987).
Jansen, H.G., Sanyal, S., DeGrip W.J. and Schalken, J.J. Development and degeneration of retina in rds mutant mice: ultraimmunohistochemical localization of opsin. Exp. Eye Res. 44: 347–361 (1987).
Steinberg, R.H., Fisher, S.K. and Anderson, D.H. Disc morphogenesis in vertebrate photoreceptors. J. Comp. Neurol. 190: 501–518 (1980).
Baehr, W., Falk, J.D., Bugra, K., Triantafyllos, J.T. and McGinnis, J.F. Isolation and analysis of the mouse opsin gene. FEBS Letters 238, 253–256 (1988).
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1993 Springer Science+Business Media New York
About this chapter
Cite this chapter
Travis, G.H., Bok, D. (1993). A Molecular Characterization of the Retinal Degeneration Slow (rds) Mouse Mutation. In: Hollyfield, J.G., Anderson, R.E., LaVail, M.M. (eds) Retinal Degeneration. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2974-3_22
Download citation
DOI: https://doi.org/10.1007/978-1-4615-2974-3_22
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4613-6294-4
Online ISBN: 978-1-4615-2974-3
eBook Packages: Springer Book Archive