FIGURE

Fig. 6

ID
ZDB-FIG-251016-32
Publication
Yousaf et al., 2025 - Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder
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Fig. 6

Transient suppression of endogenous snapin leads to head size reduction and craniofacial defects with a concomitant increase in apoptosis (A–C) Representative images of larvae injected with snapin MO with or without human SNAPIN WT RNA. (A) Head size area was measured from bright-field lateral images at 3 dpf, (B) ceratohyal cartilage angle was measured on fluorescent ventral images at 3 dpf, and (C) cells undergoing apoptosis were counted on dorsal images of TUNEL-stained whole-mount embryos at 2 dpf. (D–F) Quantification of (D) head size, (E) ceratohyal cartilage angle, and (F) apoptotic cells. (G) Representative dorsal fluorescent images of acetylated tubulin-immunostained larvae from in vivo complementation assays at 3 dpf. (H–J) Quantification of (H) cerebellar area, (I) number of intertectal neurons crossing the midline, and (J) area of optic tecta. Data were normalized to UC and represent >2 biological replicates. Horizontal red bars mark the mean. Statistical test: one-way ANOVA followed by the Tukey multiple comparison test (∗∗p < 0.01, ∗∗∗p < 0.001, and ∗∗∗∗p < 0.0001). Dashed magenta shape on UC marks the feature measured for quantification. Scale bar: 100 μm for all images.

Expression Data

Expression Detail
Antibody Labeling
Phenotype Data

Phenotype Detail
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