ZFIN ID: ZDB-FIG-180820-10
Madelaine et al., 2018 - A screen for deeply conserved non-coding GWAS SNPs uncovers a MIR-9-2 functional mutation associated to retinal vasculature defects in human. Nucleic acids research   46(7):3517-3531 Full text @ Nucleic Acids Res.
ADDITIONAL FIGURES
EXPRESSION / LABELING:
Genes:
Fish:
Anatomical Terms:
Stage Range: Prim-5 to Adult
PHENOTYPE:
Fish:
Observed In:
Stage Range: Long-pec to Adult

Fig. 2

Functional validation of conserved CNEs enhancer activity and demonstration that the associated SNP can be a regulatory mutation. (A) Schematic of the transgenes carrying the protective and the risk alleles. (B) Confocal projections of EGFP immunolabeling in Tg(CNE1:egfp), Tg(CNE8:egfp), Tg(CNE10:egfp), Tg(CNE15:egfp) and Tg(CNE18:egfp), demonstrating the specific enhancer activity of these human CNEs in zebrafish. (CE) The sequence surrounding rs17421627, rs1568679 and rs16932455 are conserved during evolution. (C) Confocal sections of EGFP immunolabeling in Tg(CNE1:egfp) containing the protective allele or Tg(CNE1SNP:egfp) containing the risk allele (rs17421627) in the adult retina immunolabeled with glutamine synthetase (GS). (D) Confocal projections of EGFP immunolabeling in Tg(CNE8:egfp) containing the protective allele or Tg(CNE8SNP:egfp) containing the risk allele (rs1568679) in the brain of olig2:dsred2 transgenic larvae at 72 hpf. (E) Confocal projections of EGFP immunolabeling in Tg(CNE18:egfp) containing the protective allele or Tg(CNE18SNP:egfp) containing the risk allele (rs16932455) in retina immunolabeled with HuC/D at 48 hpf. Dorsal view of the brain with anterior up. Lateral view of the retina. Scale bars: 100 μm.

Gene Expression Details
Gene Antibody Fish Conditions Stage Anatomy Assay
DsRed2 vu19Tg; zf3441Tg standard conditions Protruding-mouth brain IFL
EGFP vu19Tg; zf3441Tg standard conditions Protruding-mouth brain IHC
zf3233Tg standard conditions Protruding-mouth brain IHC
Protruding-mouth eye IHC
Adult retina IHC
zf3234Tg standard conditions Adult retina IHC
zf3235Tg standard conditions Protruding-mouth brain IHC
zf3236Tg standard conditions Long-pec retina IHC
zf3441Tg standard conditions Protruding-mouth brain IHC
zf3442Tg standard conditions Prim-5 notochord IHC
zf3443Tg standard conditions Protruding-mouth trunk IHC
zf3444Tg standard conditions Long-pec retina IHC
Protruding-mouth retina IHC
Antibody Labeling Details No data available
Phenotype Details
Fish Conditions Stage Phenotype
zf3234Tg standard conditions Adult retina EGFP expression decreased amount, abnormal
zf3235Tg standard conditions Protruding-mouth brain EGFP expression decreased amount, abnormal
zf3236Tg standard conditions Long-pec retina EGFP expression decreased amount, abnormal
Acknowledgments:
This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Nucleic Acids Res.