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|Species|| C. elegans |
|Description||Egl, with defects in HSN migration, and HSN and PVQ axon guidance. Crispr/Cas9 induced mutation in Ring1 domain with epigenetic effects on neurodevelopment. Amino acid substitution that likely disrupts interaction with a specific substrate, resulting in a phenotype comparable to a complete gene deletion. Reference: Pierce SB, et al. Proc Natl Acad Sci U S A. 2018 Feb 13;115(7):1558-1563.|
|Made by||Sarah Pierce|
|Reference ||De novo mutation in RING1 with epigenetic effects on neurodevelopment.
Pierce SB, Stewart MD, Gulsuner S, Walsh T, Dhall A, McClellan JM, Klevit RE, King MC.
Proc Natl Acad Sci U S A. 2018 Feb 13;115(7):1558-1563. doi: 10.1073/pnas.1721290115. Epub 2018 Jan 31.