Inherited Retinal Diseases: Vertebrate Animal Models

Abstract

Animal models are powerful tools with which to investigate the aetiology of human retinal degenerations, especially retinitis pigmentosa (RP) and allied diseases. Gene defects identified in some animal models were later discovered in orthologous genes in human RP families.

Keywords: retinitis pigmentosa; animal models; transgenes; gene knockout; retinal degeneration; phototransduction; visual cycle

Figure 1.

Naturally occurring animal models of retinal degeneration. Arrows point to components of the visual cascade the genes of which are defective in that animal model. R, rhodopsin; T, transducin; PDE, cGMP phosphodiesterase; CNG, cyclic nucleotide‐gated cation channel; GC, guanylate cyclase; GCAP, guanylate cyclase activating protein; rds, retinal degeneration slow protein (peripherin); rd, retinal degeneration; Greek letters denote specific subunits of these components.

close

References

Bentrop J (1998) Rhodopsin mutations as the cause of retinal degeneration. Classification of degeneration phenotypes in the model system Drosophila melanogaster. Acta Anatomica (Basel) 162: 85–94.

Capecchi MR (2000) How close are we to implementing gene targeting in animals other than the mouse? Proceedings of the National Academy of Sciences of the USA 97: 956–957.

Hafezi F, Grimm C, Simmen BC, Wenzel A and Reme CE (2000) Molecular ophthalmology: an update on animal models for retinal degenerations and dystrophies. British Journal of Ophthalmology 84: 922–927.

Lem J and Makino CL (1996) Phototransduction in transgenic mice. Current Opinion in Neurobiology 6: 453–458.

Lolley RN (1994) The rd gene defect triggers programmed rod cell death. The Proctor Lecture. Investigation on Ophthalmology and Visual Science 35: 4182–4191.

Pak RN (1991) Molecular genetic studies of photoreceptor function using Drosophila mutants. Progress in Clinical and Biological Research 362: 1–32.

Pak WL (1995) Drosophila in vision research. The Friedenwald Lecture. Investigations on Ophthalmology and Visual Science 36: 2340–2357.

Petersen‐Jones SM (1998) Animal models of human retinal dystrophies. Eye 12: 566–570.

Pittler SJ, Keeler CE, Sidman RL and Baehr W (1993) PCR analysis of DNA from 70‐year‐old sections of rodless retina demonstrates identity with the mouse rd defect. Proceedings of the National Academy of Sciences of the USA 90: 9616–9619.

Semple‐Rowland SL and Lee NR (2000) Avian models of inherited retinal disease. In: Palczewski K (ed.) Vertebrate Phototransduction and the Visual Cycle, Methods in Enzymology (Abelson J and Simon M, editors‐in‐chief), vol. 316, chap. 35, pp. 527–537 San Diego, CA: Academic Press.

Travis GH (1991) Molecular characterization of the retinal degeneration slow (rds) mutation in mouse. Progress in Clinical and Biological Research 362: 87–114.

van der Neut NR (1997) Targeted gene disruption: applications in neurobiology. Journal of Neuroscience Methods 71: 19–27.

Zuker CS (1996) The biology of vision of Drosophila. Proceedings of the National Academy of Sciences of the USA 93: 571–576.

Further Reading

Hafezi F, Grimm C, Simmen BC, Wenzel A and Reme CE (2000) Molecular ophthalmology: an update on animal models for retinal degenerations and dystrophies. British Journal of Ophthalmology 84: 922–927.

Lem J and Fain GL (2004) Constitutive opsin signaling: night blindness or retinal degeneration? Trends in Molecular Medicine 10: 150–157.

Lem J and Makino CL (1996) Phototransduction in transgenic mice. Current Opinion in Neurobiology 6: 453–458.

Lolley RN (1994) The rd gene defect triggers programmed rod cell death. The Proctor Lecture. Investigations on Ophthalmology and Visual Science 35: 4182–4191.

Thompson DA and Gal A (2003) Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases. Progress in Retinal and Eye Research 22: 683–703.

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Baehr, Wolfgang, and Frederick, Jeanne(Jan 2006) Inherited Retinal Diseases: Vertebrate Animal Models. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0004066]