Format

Send to

Choose Destination
Commun Biol. 2018 Dec 21;1:236. doi: 10.1038/s42003-018-0226-0. eCollection 2018.

Identification of genes required for eye development by high-throughput screening of mouse knockouts.

Author information

1
1William R. Pritchard Veterinary Medical Teaching Hospital, School of Veterinary Medicine, University of California-Davis, Davis, 95616 CA USA.
2
2Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California-Davis, Davis, CA 95616 USA.
3
3Comparative Pathology Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, CA 95616 USA.
4
4Medical Research Council Harwell Institute (Mammalian Genetis Unit and Mary Lyon Center, Harwell, Oxfordshire OX11 0RD UK.
5
5Mouse Biology Program, and Department of Surgery, School of Medicine, University of California-Davis, Davis, CA 95618 USA.
6
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1 SD UK.
7
7Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch, France.
8
8Centre National de la Recherche Scientifique, UMR7104 Illkirch, France.
9
Institut National de la Santé et de la Recherche Médicale, U1258 Illkirch, France.
10
10Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch, France.
11
11CELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), CNRS, INSERM, University of Strasbourg, 1 rue Laurent Fries, 67404 Illkirch-Graffenstaden, France.
12
The Centre for Phenogenomics, Toronto, ON M5T 3H7 Canada.
13
13The Hospital for Sick Children, Toronto, ON M5G 1X8 Canada.
14
14Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5 Canada.
15
15Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030 USA.
16
16Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 USA.
17
17The Jackson Laboratory, Bar Harbor, ME 04609 USA.
18
18SKL of Pharmaceutical Biotechnology and Model Animal Research Center, Collaborative Innovation Center for Genetics and Development, Nanjing Biomedical Research Institute, Nanjing University, Nanjing, 210061 China.
19
19RIKEN BioResource Center, Tsukuba, Ibaraki 305-0074 Japan.
20
20Clinical Pharmacology, Charterhouse Square, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ UK.
21
21Korea Mouse Phenotyping Consortium (KMPC) and BK21 Program for Veterinary Science, Research Institute for Veterinary Science, College of Veterinary Medicine, Seoul National University, 599 Gwanangno, Gwanak-gu, Seoul, 08826 South Korea.
22
Monterotondo Mouse Clinic, Italian National Research Council (CNR), Institute of Cell Biology and Neurobiology, Adriano Buzzati-Traverso Campus, Via Ramarini, I-00015 Monterotondo Scalo, Italy.
23
International Mouse Phenotyping Consortium, San Anselmo, CA 94960 USA.
24
24National Institutes of Health, Bethesda, MD 20205 USA.
25
The Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA UK.
26
26German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstraße 1, 85764 Neuherberg, Germany.
27
27Department of Ophthalmology & Vision Science, School of Medicine, U.C. Davis, Sacramento, CA 95817 USA.
#
Contributed equally

Abstract

Despite advances in next generation sequencing technologies, determining the genetic basis of ocular disease remains a major challenge due to the limited access and prohibitive cost of human forward genetics. Thus, less than 4,000 genes currently have available phenotype information for any organ system. Here we report the ophthalmic findings from the International Mouse Phenotyping Consortium, a large-scale functional genetic screen with the goal of generating and phenotyping a null mutant for every mouse gene. Of 4364 genes evaluated, 347 were identified to influence ocular phenotypes, 75% of which are entirely novel in ocular pathology. This discovery greatly increases the current number of genes known to contribute to ophthalmic disease, and it is likely that many of the genes will subsequently prove to be important in human ocular development and disease.

Supplemental Content

Full text links

Icon for PubMed Central
Loading ...
Support Center