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Article

Forward genetic analysis using OCT screening identifies Sfxn3 mutations leading to progressive outer retinal degeneration in mice.

Proceedings of the National Academy of Sciences of the United States of America - 9 Jun 2020

Chen Bo, Aredo Bogale, Ding Yi, Zhong Xin, Zhu Yuanfei, Zhao Cynthia X, Kumar Ashwani, Xing Chao, Gautron Laurent, Lyon Stephen, Russell Jamie, Li Xiaohong, Tang Miao, Anderton Priscilla, Ludwig Sara, Moresco Eva Marie Y, Beutler Bruce, Ufret-Vincenty Rafael L

Abstract excerpt

Retinal disease and loss of vision can result from any disruption of the complex pathways controlling retinal development and homeostasis. Forward genetics provides an excellent tool to find, in an unbiased manner, genes that are essential to these processes. Using N-ethyl-N-nitrosourea mutagenesis in mice in combination with a screening protocol using optical coherence tomography (OCT) and automated meiotic...

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Identifiers

PMID: 32457148
DOI: 10.1073/pnas.1921224117
PMCID: PMC7293615

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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