1. Systematic ocular phenotyping of 8,707 knockout mouse lines identifies genes associated with abnormal corneal phenotypes
- Author
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Vo, Peter, Imai-Leonard, Denise M, Yang, Benjamin, Briere, Andrew, Shao, Andy, Casanova, M Isabel, Adams, David, Amano, Takanori, Amarie, Oana, Berberovic, Zorana, Bower, Lynette, Braun, Robert, Brown, Steve, Burrill, Samantha, Cho, Soo Young, Clementson-Mobbs, Sharon, D’Souza, Abigail, Dickinson, Mary, Eskandarian, Mohammad, Flenniken, Ann M, Fuchs, Helmut, Gailus-Durner, Valerie, Heaney, Jason, Hérault, Yann, Angelis, Martin Hrabe de, Hsu, Chih-Wei, Jin, Shundan, Joynson, Russell, Kang, Yeon Kyung, Kim, Haerim, Masuya, Hiroshi, Meziane, Hamid, Murray, Steve, Nam, Ki-Hoan, Noh, Hyuna, Nutter, Lauryl MJ, Palkova, Marcela, Prochazka, Jan, Raishbrook, Miles Joseph, Riet, Fabrice, Ryan, Jennifer, Salazar, Jason, Seavey, Zachery, Seavitt, John Richard, Sedlacek, Radislav, Selloum, Mohammed, Seo, Kyoung Yul, Seong, Je Kyung, Shin, Hae-Sol, Shiroishi, Toshihiko, Stewart, Michelle, Svenson, Karen, Tamura, Masaru, Tolentino, Heather, Udensi, Uchechukwu, Wells, Sara, White, Jacqueline, Willett, Amelia, Wotton, Janine, Wurst, Wolfgang, Yoshiki, Atsushi, Lanoue, Louise, Lloyd, KC Kent, Leonard, Brian C, Roux, Michel J, McKerlie, Colin, and Moshiri, Ala
- Subjects
Biological Sciences ,Bioinformatics and Computational Biology ,Biomedical and Clinical Sciences ,Ophthalmology and Optometry ,Biotechnology ,Genetics ,Eye Disease and Disorders of Vision ,2.1 Biological and endogenous factors ,Eye ,Animals ,Mice ,Knockout ,Phenotype ,Mice ,Humans ,Cornea ,Corneal Diseases ,Corneal dysmorphologies ,Corneal disease ,Corneal dystrophies ,International Mouse Phenotyping Consortium ,Information and Computing Sciences ,Medical and Health Sciences ,Bioinformatics ,Biological sciences ,Biomedical and clinical sciences - Abstract
PurposeCorneal dysmorphologies (CDs) are typically classified as either regressive degenerative corneal dystrophies (CDtrs) or defective growth and differentiation-driven corneal dysplasias (CDyps). Both eye disorders have multifactorial etiologies. While previous work has elucidated many aspects of CDs, such as presenting symptoms, epidemiology, and pathophysiology, the genetic mechanisms remain incompletely understood. The purpose of this study was to analyze phenotype data from 8,707 knockout mouse lines to identify new genes associated with the development of CDs in humans.Methods8,707 knockout mouse lines phenotyped by the International Mouse Phenotyping Consortium were queried for genes associated with statistically significant (P
- Published
- 2025