FIGURE

Fig. S8

ID

ZDB-FIG-170428-2

Publication

Wiessner et al., 2017 - Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Other Figures

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Fig. S8

Neuromuscular junction morphology in inpp5ka+inpp5kb morphants.

For whole-mount immunofluorescence staining, 48-hpf zebrafish embryos were fixed in 4% paraformaldehyde in PBS at 4°C overnight and blocked for 1 hr at RT in 5% horse serum in PBS, 0.1% Tween-20. Presynaptic motor nerve endings were visualized by incubation with mouse anti-synaptic vesicle protein 2 antibody (SV2, DSHB; 1:200) overnight at 4°C followed by Alexa Fluor 488-conjugated goat anti-mouse IgG antibody for 1 hr at RT. Acetylcholine receptors (AChR) were labelled with Alexa Fluor 594-conjugated α- bungarotoxin (Thermo Fisher Scientific; 1:1,000). Images were captured with a Nikon A1R confocal microscope (Nikon). Images for inpp5ka+inpp5kb morphants represent mild, moderate and severe phenotypes (from left to right) as staged macroscopically. Both in controls and in inpp5ka+inpp5kb morphants, motor axons had made branches into somites where they formed contacts with AChR clusters. Scale bars = 50 μm.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Fish:	slc24a5^b1/+ + MO5-inpp5ka + MO5-inpp5kb
Knockdown Reagents:	MO5-inpp5ka MO5-inpp5kb
Observed In:	somite neuromuscular junction
Stage:	Long-pec

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.