[Skip to Content]
[Skip to Content Landing]
Article
July 1993

Of Mice and Men: What Mice Can Teach Us About Human Ophthalmic Disease

Author Affiliations

Baltimore, Md

Arch Ophthalmol. 1993;111(7):911-913. doi:10.1001/archopht.1993.01090070029013

This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables.

Abstract

Mice HAVE traditionally been the animal of choice in mammalian genetic studies. They have been important both in increasing our understanding of basic genetic processes and as model systems to study specific human genetic diseases. Many fields in medicine have benefited greatly from such studies. Ophthalmology and visual science, however, with some notable exceptions such as the murine retinal degeneration and retinal degeneration slow mutations, have not, in general, placed much emphasis on murine genetic analyses. There are good reasons for this. Among other problems, mouse eyes are small and difficult to work with. There are structural differences between human and murine eyes, and the murine visual cortex and higher visual centers are not well developed. Despite these limitations, however, the development of new approaches that combine the power of traditional mouse genetics with modern molecular techniques make it certain that mouse studies will play an increasingly important role in

References
1.
Dietrich W, Katz H, Lincoln SE, et al.  A genetic map of the mouse suitable for typing intraspecies crosses . Genetics . 1992;131:423-447.
2.
McInnes RR, Bascom RA.  Retinal genetics: a nullifying effect for rhodopsin . Nature Genet . 1992;1:155-157.Article
3.
Rossant J.  Gene disruption in mammals . Curr Opin Genet Dev . 1991;1:236-240.Article
4.
Travis J.  Scoring a technical knockout in mice . Science . 1992;256:1392-1394.Article
5.
Farrar FJ, Kenna P, Jordan SA, et al.  A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa . Nature . 1991;354:478-480.Article
6.
Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja TP.  Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa . Nature . 1991;354:480-483.Article
7.
Kajiwara K, Sandberg GA, Berson EL, Dryja TP.  A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens . Nature Genetics . 1993;3:208-212.Article
8.
Nichols BE, Sheffield VC, Vandenburgh K, et al.  Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene . Nature Genetics . 1993;3:202-207.Article
9.
Wells J, Wroblewski J, Keen J, et al.  Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy . Nature Genetics . 1993;3:213-218.Article
10.
Dryja TP, McGee TL, Reichel E, et al.  A point mutation of the rhodopsin gene in one form of retinitis pigmentosa . Nature . 1990;343:364-366.Article
11.
Sung C-H, Davenport CM, Hennessey JC, et al.  Rhodopsin mutations in autosomal dominant retinitis pigmentosa . Proc Natl Acad Sci U S A . 1991;88:6481-6485.Article
12.
Hill RE, Favor J, Hogan BLM, et al.  Mouse small eye results from mutations in a paired-like homeobox-containing gene . Nature . 1991;354:522.Article
13.
Ton CCT, Hirvonen H, Miwa H, et al.  Positional cloning and charaterization of a paired box- and homeobox-containing gene from the aniridia region . Cell . 1991;67:1059-1074.Article
14.
Wright CV.  Vertebrate homeobox genes . Curr Opin Cell Biol . 1991;3:976-82.Article
15.
Tassabehji M, Read AP, Newton VE, et al.  Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene . Nature . 1992;355:635-636.Article
16.
Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A.  An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome . Nature . 1992;355:637-638.Article
17.
Monaghan AP, Davidson DR, Sime C, et al.  The Msh-like homeobox genes define domains in the developing vertebrate eye . Development . 1991;112:1053-1061.
18.
Zack DJ.  Analysis of retinal-specific gene expression in transgenic mice . In: Hargrave PA, ed. Methods in Neuroscience: Photoreceptor Cells . Orlando, Fla: Academic Press Inc; 1992;9:815-830.
19.
Sakai T, Ohtani N, McGee TL, Robbins PD, Dryja TP.  Oncogenic germ-line mutations in Spl and ATF sites in the human retinoblastoma gene . Nature . 1991;353:83-86.Article
20.
Olssen JE, Gordon JW, Pawlyk BS, et al.  Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa . Neuron . 1992;9:815-830.Article
21.
Windle JJ, Albert DM, O'Brien JM, et al.  Retinoblastoma in transgenic mice . Nature . 1990;343:665-669.Article
×