Hundreds of new genes linked to blindness and other vision disorders have been identified in a screen of mouse strains. Many of these genes are likely important in human eye vision and the results could help identify new causes of hereditary blindness in patients. The work is published Dec. 21 in Nature Communications Biology.
“This is extremely valuable for people with hereditary eye disease,” said Ala Moshiri, associate professor of ophthalmology and vision science in the University of California, Davis, School of Medicine and Eye Center. “The whole ophthalmic community is going to start using these data.”
The results are the latest to come from the International Mouse Phenotyping Consortium, of which UC Davis’ Mouse Biology Program is a founding member. The goal of the consortium is to identify a function for every gene in the mouse genome, by creating lines of “knockout” mice that lack a single specific gene and screening them for their effects. Consortium researchers have previously identified a set of genes essential to life, genes linked to deafness and even those linked to hereditary bad breath.
To date, the consortium has generated more than 7,000 strains of gene-knockout mice, of which 4,364 have been characterized across 11 organ systems.
“The data being generated by the IMPC is accelerating the application of genomics in clinical medicine,” said Kent Lloyd, director of the UC Davis Mouse Biology Program and principal investigator of the Knockout Mouse Production and Phenotyping (KOMP2) project at UC Davis.
The team led by Bret Moore, resident at the UC Davis Veterinary Medical Teaching Hospital, Moshiri and colleagues combed the consortium database for genes linked to eye and vision defects. They identified 347 genes, of which 86 were either well-established as involved in eye disease or were associated with vision in some way. Three-quarters of the genes — 261 — were not previously known to cause eye disease in any species.