FIGURE

Fig. 7

ID
ZDB-FIG-240129-7
Publication
Koop et al., 2023 - Macrocephaly and developmental delay caused by missense variants in RAB5C
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Fig. 7

rab-5 Q78R and A29P heterozygotes contain altered numbers of normal size GFP::RAB-7 late endosomes. Assessment of late endosome formation with marker GFP::RAB-7 in Q78R and A29P variant heterozygotes. (A) and (B) Low-magnification GFP::RAB-7 fluorescent images of a middle plane from the worm intestine, with the lumen running along the length and insets (lower left) showing high-magnification confocal views of late endosome ring-like structures, in cross section. Images from (A) the Q78Q control edit (left) and Q78R variant edit (right) heterozygotes and (B) the A29A control edit (left) and A29P variant edit (right) heterozygotes. (C) and (D) Scatter plot of the normalized number of ring-like compartments viewed in cross section for (C) Q78Q control edit (green circles) (n = 15) and Q78R variant edit (orange triangles) (n = 14) heterozygotes and (D) A29A control edit (green circles) (n = 14) and A29P variant edit (orange triangles) (n = 11) heterozygotes. The scatter plot shows the mean and standard deviation. Differences between groups were determined by Student’s t-test. **P < 0.01, and ***P < 0.001. Whole image scale bar, 10 μm. The panel at the bottom left inset shows a zoomed-in region represented by the white rectangle in the main image, inset scale bar, 1 μm

Expression Data

Expression Detail
Antibody Labeling
Phenotype Data

Phenotype Detail
Acknowledgments
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