Strain Information

Name CER248   View On Wormbase
Species C. elegans
Genotypesnrp-200(cer24[S1080L]) II.
DescriptionPartial loss of function allele. snrp-200(cer24[S1080L]) point mutation mimics a mutation identified in a Retinitis Pigmentosa patient. Slow growth (Gro). Reference: Kukhtar D, et al. Hum Mol Genet. 2020 Mar 27;29(5):756-765. doi: 10.1093/hmg/ddz315. PMID: 31919495
Made byDmytro Kukhtar
Laboratory CER
Reference Mimicking of splicing-related retinitis pigmentosa mutations in C. elegans allow drug screens and identification of disease modifiers Dmytro Kukhtar, Karinna Rubio-Peña, Xènia Serrat, Julián Cerón Human Molecular Genetics, 2020 Mar 27;29(5):756-765. doi: 10.1093/hmg/ddz315.
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