Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (34)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Thaung, C.
Right arrow Articles by Cross, S. H.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Thaung, C.
Right arrow Articles by Cross, S. H.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, 2002, Vol. 11, No. 7 755-767
© 2002 Oxford University Press

Novel ENU-induced eye mutations in the mouse: models for human eye disease

Caroline Thaung1,2, Katrine West1, Brian J. Clark3, Lisa McKie1, Joanne E. Morgan1, Karen Arnold1,2, Patrick M. Nolan2, Jo Peters2, A. Jackie Hunter4, Steve D. M. Brown2, Ian J. Jackson1 and Sally H. Cross1,+

1Comparative and Developmental Genetics Section, MRC Human Genetics Unit, Edinburgh EH4 2XU, UK, 2MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell OX11 0RD, UK, 3Department of Pathology, Institute of Ophthalmology, University College, London EC1V 9EL, UK and 4Neurology CEDD, GlaxoSmithKline, Harlow CM19 5AW, UK

We have carried out a genome-wide screen for novel N-ethyl-N-nitrosourea-induced mutations that give rise to eye and vision abnormalities in the mouse and have identified 25 inherited phenotypes that affect all parts of the eye. A combination of genetic mapping, complementation and molecular analysis revealed that 14 of these are mutations in genes previously identified to play a role in eye pathophysiology, namely Pax6, Mitf, Egfr and Pde6b. Many of the others are located in genomic regions lacking candidate genes and these define new loci. Four of the mutants display a similar phenotype of dilated pupils but do not appear to be allelic, and at least two of these are embryonic lethal when homozygous. This collection of eye mutations will be valuable for understanding gene function, for dissecting protein function and as models of human eye disease.

+ To whom correspondence should be addressed. Tel: +44 131 332 2471; Fax: +44 131 343 2620; Email: sally.cross@hgu.mrc.ac.uk


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 IOVSHome page
O. Puk, J. Loster, C. Dalke, D. Soewarto, H. Fuchs, B. Budde, P. Nurnberg, E. Wolf, M. H. de Angelis, and J. Graw
Mutation in a Novel Connexin-like Gene (Gjf1) in the Mouse Affects Early Lens Development and Causes a Variable Small-Eye Phenotype
Invest. Ophthalmol. Vis. Sci., April 1, 2008; 49(4): 1525 - 1532.
[Abstract] [Full Text] [PDF]

Home page
 Arch OphthalmolHome page
C. Bredrup, P. M. Knappskog, E. Rodahl, and H. Boman
Clinical Manifestation of a Novel PAX6 Mutation Arg128Pro
Arch Ophthalmol, March 1, 2008; 126(3): 428 - 430.
[Full Text] [PDF]

Home page
 GeneticsHome page
J. Favor, C. J. Gloeckner, D. Janik, M. Klempt, A. Neuhauser-Klaus, W. Pretsch, W. Schmahl, and L. Quintanilla-Fend
Type IV Procollagen Missense Mutations Associated With Defects of the Eye, Vascular Stability, the Brain, Kidney Function and Embryonic or Postnatal Viability in the Mouse, Mus musculus: An Extension of the Col4a1 Allelic Series and the Identification of the First Two Col4a2 Mutant Alleles
Genetics, February 1, 2007; 175(2): 725 - 736.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
V. N. Simirskii, R. S. Lee, E. F. Wawrousek, and M. K. Duncan
Inbred FVB/N Mice Are Mutant at the cp49/Bfsp2 Locus and Lack Beaded Filament Proteins in the Lens
Invest. Ophthalmol. Vis. Sci., November 1, 2006; 47(11): 4931 - 4934.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
A. W. Hart, J. E. Morgan, J. Schneider, K. West, L. McKie, S. Bhattacharya, I. J. Jackson, and S. H. Cross
Cardiac malformations and midline skeletal defects in mice lacking filamin A
Hum. Mol. Genet., August 15, 2006; 15(16): 2457 - 2467.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
J. Graw, J. Loster, O. Puk, D. Munster, N. Haubst, D. Soewarto, H. Fuchs, B. Meyer, P. Nurnberg, W. Pretsch, et al.
Three Novel Pax6 Alleles in the Mouse Leading to the Same Small-Eye Phenotype Caused by Different Consequences at Target Promoters
Invest. Ophthalmol. Vis. Sci., December 1, 2005; 46(12): 4671 - 4683.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
T. Van Agtmael, U. Schlotzer-Schrehardt, L. McKie, D. G. Brownstein, A. W. Lee, S. H. Cross, Y. Sado, J. J. Mullins, E. Poschl, and I. J. Jackson
Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy
Hum. Mol. Genet., November 1, 2005; 14(21): 3161 - 3168.
[Abstract] [Full Text] [PDF]

Home page
 Microbiol. Mol. Biol. Rev.Home page
S. P. Cordes
N-Ethyl-N-Nitrosourea Mutagenesis: Boarding the Mouse Mutant Express
Microbiol. Mol. Biol. Rev., September 1, 2005; 69(3): 426 - 439.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
A. W. Hart, L. McKie, J. E. Morgan, P. Gautier, K. West, I. J. Jackson, and S. H. Cross
Genotype-Phenotype Correlation of Mouse Pde6b Mutations
Invest. Ophthalmol. Vis. Sci., September 1, 2005; 46(9): 3443 - 3450.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
S. H. Cross, J. E. Morgan, A. Pattyn, K. West, L. McKie, A. Hart, C. Thaung, J.-F. Brunet, and I. J. Jackson
Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome
Hum. Mol. Genet., July 15, 2004; 13(14): 1433 - 1439.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
M. Inoue, Y. Sakuraba, H. Motegi, N. Kubota, H. Toki, J. Matsui, Y. Toyoda, I. Miwa, Y. Terauchi, T. Kadowaki, et al.
A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program
Hum. Mol. Genet., June 1, 2004; 13(11): 1147 - 1157.
[Abstract] [Full Text] [PDF]

Home page
 GeneticsHome page
J. Graw, W. Pretsch, and J. Loster
Mutation in Intron 6 of the Hamster Mitf Gene Leads to Skipping of the Subsequent Exon and Creates a Novel Animal Model for the Human Waardenburg Syndrome Type II
Genetics, July 1, 2003; 164(3): 1035 - 1041.
[Abstract] [Full Text] [PDF]

Home page
 Genes Dev.Home page
K. R. Fitch, K. A. McGowan, C. D. van Raamsdonk, H. Fuchs, D. Lee, A. Puech, Y. Herault, D. W. Threadgill, M. H. de Angelis, and G. S. Barsh
Genetics of dark skin in mice
Genes & Dev., January 15, 2003; 17(2): 214 - 228.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
V. van Heyningen and K. A. Williamson
PAX6 in sensory development
Hum. Mol. Genet., May 15, 2002; 11(10): 1161 - 1167.
[Abstract] [Full Text] [PDF]


Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.