Rffl-lnc1

Species: Rattus norvegicus

Position: chr10: 70186284-70189684

Known as:

Transcript: Rffl-lnc1

Sequence: Download

Description:

Rffl-lnc1 located within the coding gene Rffl 5'-UTR intronic region, and is deemed as a genetic determinant of QT-interval and blood pressure. Targeted disruption of the rat Rffl-lnc1 locus caused aberrant, short QT-intervals and elevated blood pressure. Further, to specifically examine the significance of the 19bp polymorphism within the Rffl-lnc1 locus, a CRISPR/Cas9 based targeted knock-in rescue model was constructed by inserting the 19bp into the strain which contained the deletion polymorphism. The knock-in alleles successfully rescued the aberrant QT-interval and blood pressure phenotypes. Further studies revealed that the 19bp polymorphism was necessary and sufficient to recapitulate the phenotypic effect of the previously mapped <42.5kb quantitative trait loci (QTLs) in the rat genome.



sgRNAs

sgRNA_ID Sequence Position (Chr) Position (Lnc) Length PAM Type Validity Cell line Note Ref.
sgRNA1 AAGCCATGGAGTTAGGCCAT 70188105-70188124(-) gene body (near 5') 20 AGG CRISPRki High activity embryo 21 out of these 67 pups were mutants [1]

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Reference

1. Cheng X, Waghulde H, Mell B, Morgan EE, Pruett-Miller SM, et al. (2017). Positional cloning of quantitative trait nucleotides for blood pressure and cardiac QT-interval by targeted CRISPR/Cas9 editing of a novel long non-coding RNA. PLoS Genet 13(8): e1006961.