Document Type

Article

Publication Date

12-21-2018

JAX Source

Commun Biol Dec 21; 1:236

PMID

30588515

DOI

https://doi.org/10.1038/s42003-018-0226-0

Grant

OD011185,HG006332,OD023222,EY027860,CA034196

Abstract

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.

Comments

Outstanding technical support was provided by Samantha Burrill and Jennifer Ryan for ocular phenotyping at JAX. We also thank James Clark for data management and Wanda Jordan for training phenotypers at JAX.

This open access article is licensed under a Creative Commons Attribution 4.0 International License

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