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 language | English (US) |
|---|---|
| Article number | 236 |
| Journal | Communications Biology |
| Volume | 1 |
| Issue number | 1 |
| DOIs | |
| State | Published - Dec 1 2018 |
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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 journal › Article
}
TY - JOUR
T1 - Identification of genes required for eye development by high-throughput screening of mouse knockouts
AU - International Mouse Phenotyping Consortium
AU - Moore, Bret A.
AU - Leonard, Brian C.
AU - Sebbag, Lionel
AU - Edwards, Sydney G.
AU - Cooper, Ann
AU - Imai, Denise M.
AU - Straiton, Ewan
AU - Santos, Luis
AU - Reilly, Christopher
AU - Griffey, Stephen M.
AU - Bower, Lynette
AU - Clary, David
AU - Mason, Jeremy
AU - Roux, Michel J.
AU - Meziane, Hamid
AU - Herault, Yann
AU - Swan, Anna
AU - King, Ruairidh
AU - Keskivali-Bond, Piia
AU - Kelsey, Lois
AU - Vukobradovic, Igor
AU - Qu, Dawei
AU - Guo, Ruolin
AU - Tran, Elisa
AU - Morikawa, Lily
AU - Ganguly, Milan
AU - Law, Napoleon
AU - Shang, Xueyuan
AU - Feugas, Patricia
AU - Wang, Yanchun
AU - Zhu, Yingchun
AU - Duffin, Kyle
AU - Ramirez, Ayexa
AU - Penton, Patricia
AU - Laurin, Valerie
AU - Clarke, Shannon
AU - Lan, Qing
AU - Sleep, Gillian
AU - Creighton, Amie
AU - Jacob, Elsa
AU - Danisment, Ozge
AU - Joeng, Joanna
AU - Gertsenstein, Marina
AU - Pereira, Monica
AU - MacMaster, Sue
AU - Tondat, Sandra
AU - Carroll, Tracy
AU - Thomasy, Sara M.
AU - Murphy, Christopher J.
AU - Moshiri, Ala
PY - 2018/12/1
Y1 - 2018/12/1
N2 - 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.
AB - 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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UR - http://www.scopus.com/inward/citedby.url?scp=85064146907&partnerID=8YFLogxK
U2 - 10.1038/s42003-018-0226-0
DO - 10.1038/s42003-018-0226-0
M3 - Article
AN - SCOPUS:85064146907
VL - 1
JO - Communications Biology
JF - Communications Biology
SN - 2399-3642
IS - 1
M1 - 236
ER -