Identification of genes required for eye development by high-throughput screening of mouse knockouts
Authors: Moore Bret A. , Leonard Brian C. , Sebbag Lionel , Edwards Sydney G. , Cooper Ann , Imai Denise M. , Straiton Ewan , Santos Luis , Reilly Christopher , Griffey Stephen M. , Bower Lynette , Clary David , Mason Jeremy , Roux Michel J. , Meziane Hamid , Herault Yann ,   International Mouse Phenotyping Consortium, Swan Anna , King Ruairidh , Keskivali-Bond Piia , Kelsey Lois , Vukobradovic Igor , Qu Dawei , Guo Ruolin , Tran Elisa , Morikawa Lily , Ganguly Milan , Law Napoleon , Shang Xueyuan , Feugas Patricia , Wang Yanchun , Zhu Yingchun , Duffin Kyle , Ramirez Ayexa , Penton Patricia , Laurin Valerie , Clarke Shannon , Lan Qing , Sleep Gillian , Creighton Amie , Jacob Elsa , Danisment Ozge , Joeng Joanna , Gertsenstein Marina , Pereira Monica , MacMaster Sue , Tondat Sandra , Carroll Tracy , Cabezas Jorge , Patel Amit , Hunter Jane , Clark Gregory , Bubshait Mohammed , Miller David , Sohel Khondoker , Bezginov Alexandr , McKay Matthew , Peterson Kevin , Goodwin Leslie , Urban Rachel , Kales Susan , Hallett Rob , Nguyen-Bresinsky Dong , Leach Timothy , Seluke Audrie , Perkins Sara , Slater Amanda , Bedigian Rick , Donahue Leah Rae , Taft Robert , Denegre James , Seavey Zachery , Willett Amelia , Bates Lindsay , Haynes Leslie , Creed Julie , Witmeyer Catherine , Roper Willson , Clark James , Stanley Pamela , Burrill Samantha , Ryan Jennifer , Obata Yuichi , Tamura Masaru , Kaneda Hideki , Furuse Tamio , Kobayashi Kimio , Miura Ikuo , Yamada Ikuko , Masuya Hiroshi , Tanaka Nobuhiko , Ayabe Shinya , Yoshiki Atsushi , Vancollie Valerie , Chiani Francesco , Di Pietro Chiara , Di Segni Gianfranco , Ermakova Olga , Ferrara Filomena , Fruscoloni Paolo , Gambadoro Alessia , Gastaldi Serena , Golini Elisabetta , La Sala Gina , Mandillo Silvia , Marazziti Daniela , Massimi Marzia , Matteoni Rafaele , Orsini Tiziana , Pasquini Miriam , Raspa Marcello , Rauch Aline , Rossi Gianfranco , Rossi Nicoletta , Putti Sabrina , Scavizzi Ferdinando , Tocchini-Valentini Giuseppe D. , McKerlie Colin , Flenniken Ann M. , Nutter Lauryl M. J. , Berberovic Zorana , Owen Celeste , Newbigging Susan , Adissu Hibret , Eskandarian Mohammed , Hsu Chih-Wei , Kalaga Sowmya , Udensi Uchechukwu , Asomugha Chinwe , Bohat Ritu , Gallegos Juan J. , Seavitt John R. , Heaney Jason D. , Beaudet Arthur L. , Dickinson Mary E. , Justice Monica J. , Philip Vivek , Kumar Vivek , Svenson Karen L. , Braun Robert E. , Wells Sara , Cater Heather , Stewart Michelle , Clementson-Mobbs Sharon , Joynson Russell , Gao Xiang , Suzuki Tomohiro , Wakana Shigeharu , Smedley Damian , Seong J. K , Tocchini-Valentini Glauco , Moore Mark , Fletcher Colin , Karp Natasha , Ramirez-Solis Ramiro , White Jacqueline K. , de Angelis Martin Hrabe , Wurst Wolfgang , Thomasy Sara M. , Flicek Paul , Parkinson Helen , Brown Steve D. M. , Meehan Terrence F. , Nishina Patsy M. , Murray Stephen A. , Krebs Mark P. , Mallon Ann-Marie , Lloyd K. C. Kent , Murphy Christopher J. , Moshiri Ala 
Published: December 2018

AbstractDespite 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.