The genes needed for eye development are identified by genetic knock-out

Title: The Paper Title: Genes required for eye development by high-
screening of mouse knockouts:
Bret A. Moore, Brian C. Leonard, Lionel Sebbag, Sydney G. Edwards, Ann Cooper, Denise M. Imai, Ewan Straiton, Luis Santos, Christopher Reilly, Stephen M. Griffey, Lynette Bower, David Clary, Jeremy Mason, Michel J. Roux, Hamid Meziane, Yann Herault, International Mouse Phenotyping Consortium, Colin McKerlie, Ann M. Flenniken, Lauryl M. J. Nutter, Zorana Berberovic, Celeste Owen, Susan Newbigging, Hibret Adissu, Mohammed Eskandarian, Chih-Wei Hsu, Sowmya Kalaga, Uchechukwu Udensi, Chinwe Asomugha, Ritu Bohat, Juan J. Gallegos, John R. Seavitt, Jason D. Heaney, Arthur L. Beaudet, Mary E. Dickinson, Monica J. Justice, Vivek Philip, Vivek Kumar, Karen L. Svenson, Robert E. Braun, Sara Wells, Heather Cater, Michelle Stewart, Sharon Clementson-Mobbs, Russell Joynson, Xiang Gao, Tomohiro Suzuki, Shigeharu Wakana, Damian Smedley, J. K Seong, Glauco Tocchini-Valentini, Mark Moore, Colin Fletcher, Natasha Karp, Ramiro Ramirez-Solis, Jacqueline K. White, Martin Hrabe de Angelis, Wolfgang Wurst, Sara M. Thomasy, Paul Flicek, Helen Parkinson, Steve D.M. Brown, Terrence F. Meehan, Patsy M. Nishina, Stephen A. Murray, Mark P. Krebs, Ann-Marie Mallon, K.C. Kent Lloyd, Christopher J. Murphy, Ala Moshiri
: 20 18/12/21
Digital Identification Number: 10.1038/s42003-0226-0
Original Link:
While next-generation gene sequencing technology has made some progress, determining the genetic basis of eye diseases remains a major challenge due to the limitations of human genetics and its high cost. Currently, fewer than 4,000 genes have available esoteric information for all organ systems.
recently, Christopher J. Murphy, Ala Moshiri, and colleagues from the International Mouse Esopid Analysis Alliance reported on the findings in an article published in the
journal Identification of Genese for eye development by high-screening of mouse knockouts. The alliance conducted a large-scale functional genetic screening study aimed at producing an invalid mutant for each mouse gene and analyzing its esotype. Of the 4,364 genes assessed, 347 were identified as eye-affecting esotypes, 75 percent of which were new discoveries in the field of eye pathology. The discovery greatly expands the number of genes known to cause eye disease, and it is likely that many of these genes will later be shown to play an important role in human eye development and disease.summary: Despites advances in next generation sequencing technologies, determining the genetic basis of ocular diseases 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.
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(Source: Science.com)