ZFIN ID: ZDB-FIG-161228-2
Giunta et al., 2016 - Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy. Human molecular genetics   25(14):2985-2996 Full text @ Hum. Mol. Genet.
ADDITIONAL FIGURES
PHENOTYPE:
Fish:
Knockdown Reagents:
Observed In:
Stage Range: Long-pec to Day 4

Fig. 5

Confocal microscopy analysis of PCs (A,B,E,F) and neuromuscular junctions (C,D,G,H) in zebrafish upon injection of three different MOs. PCs fail to differentiate in rbm7-MO (B), exosc8-MO (E) and exosc3-MO (F) zebrafish compared with ctrl-MO fish (A). The percentage of fish with cerebellar defects varies significantly between morphants, reflecting what observed in patients. Motor axon growth is defective in all three morphants (D,G,H); arrows point at abnormally short motor axons. Interestingly, only in exosc8-MO the motor neuron axon branches in close proximity of the spinal cord instead of more ventrally as in the ctrl-MO fish (G). Scale bar = 100 μm. We show the quantity and respective percentage of fish with cerebellar defects (I). Axonal defects in different morphant and phenotypical classes (only mild and moderate phenotypes were considered for this analysis) (J). The number of defective structures increases with the severity of the phenotype.

Gene Expression Details No data available
Antibody Labeling Details No data available
Phenotype Details
Fish Conditions Stage Phenotype
rw0Tg + MO1-exosc3 standard conditions Long-pec axonogenesis disrupted, abnormal
Long-pec motor neuron axon branchiness, abnormal
Long-pec motor neuron axon truncated, abnormal
Day 4 cerebellar Purkinje cell layer structural organization disrupted, abnormal
Day 4 cerebellum Purkinje cell distributed, abnormal
Day 4 cerebellum structure, abnormal
rw0Tg + MO1-rbm7 standard conditions Long-pec axonogenesis disrupted, abnormal
Long-pec motor neuron axon branchiness, abnormal
Long-pec motor neuron axon truncated, abnormal
Day 4 cerebellar Purkinje cell layer structural organization disrupted, abnormal
Day 4 cerebellum Purkinje cell distributed, abnormal
Day 4 cerebellum structure, abnormal
rw0Tg + MO2-exosc8 standard conditions Long-pec axonogenesis disrupted, abnormal
Long-pec motor neuron axon branchiness, abnormal
Long-pec motor neuron axon truncated, abnormal
Day 4 cerebellar Purkinje cell layer structural organization disrupted, abnormal
Day 4 cerebellum Purkinje cell distributed, abnormal
Day 4 cerebellum structure, abnormal
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 @ Hum. Mol. Genet.