FIGURE

Fig. 4

ID

ZDB-FIG-241121-28

Publication

Cort�s-Gonz�lez et al., 2024 - Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans

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Fig. 4

A missense variant in zebrafish Fzd5 mimicking the Pro267Leu variant does not induce a secondary neural axis. (A-F) Expression of rx3 and pax2.1 (dark purple) in 10hpf wild type embryos (A, E) and embryos injected with a wt-fzd5 (B, F), mi-fzd5 (C) or lof-fzd5 (D) mRNA. Arrowheads in (B) highlight some of the embryos displaying double axes. (E-F) Partial or complete double axes are apparent by the duplication of the rx3-positive eye field domain (ef) and the medio-lateral expansion of the pax2.1-positive midbrain domain (mb). (G) Quantification of the effect of injections on body axis establishment. Total number of embryos analysed is displayed on top of the corresponding bars. (H) Fold change in luciferase activity of transfections of lrp6, lrp6 + wt-fzd5 and lrp6 + P277L-fzd5 normalised to activity of TOPFlash alone. Data pooled from three experiments with four replicas each

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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