FIGURE

Fig. 3

ID

ZDB-FIG-251016-22

Publication

Chapman et al., 2025 - Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

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Fig. 3

Ectopic expression of TMEM184B variants p.Gly162Arg or p.Lys184Glu induces head-size and body-length phenotypes in zebrafish larvae (A) Representative bright-field lateral images of 3-day post-fertilization (dpf) larvae injected with 200 pg human TMEM184B mRNA (WT, p.Val88Met, p.Leu127Arg, p.Gly162Arg, p.Lys184Glu, p.Gly288Ala, and p.Arg282His). p.Arg282His is a presumed benign negative control (dbSNP: rs370107940; 215 heterozygotes and four homozygotes are present in 1,609,748 individuals in gnomAD v.4.1.0). Scale bar, 300 μm. Head area was measured according to white dashed line; body length was measured according to the red dashed line. (B and C) Quantification of the (B) lateral head size and (C) body length in 3-dpf larvae; n = 35–87/condition. (D) Representative bright-field lateral images of 4-dpf larvae injected with 200 pg human TMEM184B mRNA (WT, p.Gly162Arg, p.Lys184Glu, and p.Arg282His). Scale bar, 300 μm. (E and F) Quantification of the (E) lateral head size and (F) body length in 4-dpf larvae. Data shown are combined from two biological replicates; n = 54–71/condition. For (B), (C), (E), and (F), statistical differences were calculated using one-way ANOVA with Tukey’s post hoc test: ∗∗∗p < 0.001; ∗∗∗∗p < 0.0001; ns, not significant. Experimental conditions were normalized and presented as a percentage of the control mean. Error bars represent standard deviation of the mean. Data point color: black, uninjected control; blue, WT mRNA; red, variant mRNA identified in affected individuals; green, presumed benign variant mRNA from gnomAD.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

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 @ Am. J. Hum. Genet.