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

International Mouse Phenotyping Consortium

Research output: Contribution to journalArticle

6 Citations (Scopus)

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.

Original languageEnglish (US)
Article number236
JournalCommunications Biology
Volume1
Issue number1
DOIs
StatePublished - Dec 1 2018

Fingerprint

Knockout Mice
Screening
Genes
eyes
Throughput
Eye Diseases
screening
mice
eye diseases
phenotype
genes
Phenotype
Medical Genetics
Human Development
Pathology
Technology
Costs and Cost Analysis
mutants
Costs

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)
  • Medicine (miscellaneous)

Cite this

Identification of genes required for eye development by high-throughput screening of mouse knockouts. / International Mouse Phenotyping Consortium.

In: Communications Biology, Vol. 1, No. 1, 236, 01.12.2018.

Research output: Contribution to journalArticle

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