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

First Author  Moore BA Year  2018
Journal  Commun Biol Volume  1
Pages  236 PubMed ID  30588515
Mgi Jnum  J:267633 Mgi Id  MGI:6269167
Doi  10.1038/s42003-018-0226-0 Citation  Moore BA, et al. (2018) Identification of genes required for eye development by high-throughput screening of mouse knockouts. Commun Biol 1:236
abstractText  Despite 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.
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