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

• DOI: 10.1038/s42003-018-0226-0
• Publication Date: 2018-12-17T16:14:12Z
• Authors: 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; ; Anna Swan; Ruairidh King; Piia Keskivali-Bond; Lois Kelsey; Igor Vukobradovic; Dawei Qu; Ruolin Guo; Elisa Tran; Lily Morikawa; Milan Ganguly; Napoleon Law; Xueyuan Shang; Patricia Feugas; Yanchun Wang; Yingchun Zhu; Kyle Duffin; Ayexa Ramirez; Patricia Penton; Valerie Laurin; Shannon Clarke; Qing Lan; Gillian Sleep; Amie Creighton; Elsa Jacob; Ozge Danisment; Joanna Joeng; Marina Gertsenstein; Monica Pereira; Sue MacMaster; Sandra Tondat; Tracy Carroll; Jorge Cabezas; Amit Patel; Jane Hunter; Gregory Clark; Mohammed Bubshait; David Miller; Khondoker Sohel; Alexandr Bezginov; Matthew McKay; Kevin Peterson; Leslie Goodwin; Rachel Urban; Susan Kales; Rob Hallett; Dong Nguyen-Bresi...; Timothy Leach; Audrie Seluke; Sara Perkins; Amanda Slater; Rick Bedigian; Leah Rae Donahue; Robert Taft; James Denegre; Zachery Seavey; Amelia Willett; Lindsay Bates; Leslie Haynes; Julie Creed; Catherine Witmeyer; Willson Roper; James Clark; Pamela Stanley; Samantha Burrill; Jennifer Ryan; Yuichi Obata; Masaru Tamura; Hideki Kaneda; Tamio Furuse; Kimio Kobayashi; Ikuo Miura; Ikuko Yamada; Hiroshi Masuya; Nobuhiko Tanaka; Shinya Ayabe; Atsushi Yoshiki; Valerie Vancollie; Francesco Chiani; Chiara Di Pietro; Gianfranco Di Segni; Olga Ermakova; Filomena Ferrara; Paolo Fruscoloni; Alessia Gambadoro; Serena Gastaldi; Elisabetta Golini; Gina La Sala; Silvia Mandillo; Daniela Marazziti; Marzia Massimi; Rafaele Matteoni; Tiziana Orsini; Miriam Pasquini; Marcello Raspa; Aline Rauch; Gianfranco Rossi; Nicoletta Rossi; Sabrina Putti; Ferdinando Scavizzi; Giuseppe D. Tocch...; 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...; Russell Joynson; Xiang Gao; Tomohiro Suzuki; Shigeharu Wakana; Damian Smedley; J. K Seong; Glauco Tocchini-V...; Mark Moore; Colin Fletcher; Natasha Karp; Ramiro Ramirez-Solis; Jacqueline K. White; Martin Hrabe de A...; 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. Mu...; Ala Moshiri
• Keywords: Gene knockout; Candidate gene; Identification; Human disease; Genetic screen

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