FIGURE

Fig. 2

ID

ZDB-FIG-180820-10

Publication

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

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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. (C–E) 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.

Expression Data

Genes:	DsRed2 EGFP
Fish:	zf3233Tg zf3234Tg zf3235Tg zf3236Tg zf3441Tg zf3442Tg zf3443Tg zf3444Tg vu19Tg; zf3441Tg
Anatomical Terms:	brain eye notochord retina trunk
Stage Range:	Prim-5 to Adult

Expression Detail

Antibody Labeling

Phenotype Data

Fish:	zf3234Tg zf3235Tg zf3236Tg
Observed In:	brain retina
Stage Range:	Long-pec to Adult

Phenotype Detail

Acknowledgments

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