Systematic ocular phenotyping of 8,707 knockout mouse lines identifies genes associated with abnormal corneal phenotypes

• Published in: BMC genomics 2025-01, Vol.26 (1), p.48-11, Article 48
• Main Authors: 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 M J, 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, K C Kent, Leonard, Brian C, Roux, Michel J, McKerlie, Colin, Moshiri, Ala
• Format: Article
• Language: English
• Subjects: Abnormalities; Analysis; Animal research; Animals; Care and treatment; Cornea; Cornea - abnormalities; Cornea - metabolism; Cornea - pathology; Corneal disease; Corneal diseases; Corneal Diseases - genetics; Corneal Diseases - pathology; Corneal Diseases - veterinary; Corneal dysmorphologies; Corneal dystrophies; CRISPR; Data analysis; Diagnosis; Epidemiology; Eye diseases; Eye disorders; Genes; Genetic aspects; Genomes; Genotype & phenotype; Histopathology; Humans; Informatics; Literature reviews; Mice; Mice, Knockout; Mutation; Ontology; Pathology; Pathophysiology; Phenotype; Phenotypes; Phenotyping; Protein interaction; Protein-protein interactions; Proteins; RNA sequencing; Signal transduction; Statistical analysis; Statistical methods; Strings; Therapeutic targets
• ISSN: 1471-2164; 1471-2164
• DOI: 10.1186/s12864-025-11222-8

Corneal 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. 8,707 knockout mouse lines phenotyped by the International Mouse Phenotyping Consortium were queried for genes associated with statistically significant (P