ZFIN ID: ZDB-FIG-200730-2
Lee et al., 2020 - Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nature communications   11:3698 Full text @ Nat. Commun.
ADDITIONAL FIGURES
EXPRESSION / LABELING:
Genes:
Fish:
Knockdown Reagent:
Anatomical Terms:
Stage Range: Long-pec to Protruding-mouth
PHENOTYPE:
Fish:
Knockdown Reagent:
Observed In:
Stage Range: Long-pec to Day 5

Fig. 2 <italic>fam50a</italic> KO zebrafish display central nervous system and craniofacial patterning defects.

a Representative bright field lateral images of WT and fam50a KO are shown at 3 and 5 days post-fertilization (dpf). Morphology of fam50a KO was relatively normal at 3 dpf; repeated four times. However, at 5 dpf, fam50a KO showed craniofacial abnormalities; repeated five times. Number of larvae assessed with similar results: 3 dpf, n = 56; 5 dpf, n = 44. b Fluorescent lateral images of WT and fam50a KO larvae on a Tg(huc:egfp) neuronal reporter. No difference between WT and fam50a KO was detected in the anterior structures at 2 dpf. However, at 3 dpf, a prominent reduction of GFP-positive neurons was observed in KO larvae. Number of larvae assessed with similar results: 2 dpf, n = 20; 3 dpf, n = 20. c Whole-mount in situ hybridization (WISH) of her4.1, a molecular marker of neurogenesis, indicated a depletion of neurons in fam50a KO compared to WT at 3 dpf; repeated. Number of larvae assessed with similar results: 2 dpf, n = 24; 3 dpf, n = 21. d Apoptosis markers are elevated in fam50a KO larvae at 2 dpf. Note the induction of tp53 and tp53 target genes, mdm2 and cdkn1a (p21) in the cell proliferative zone in the midbrain region fam50a KO larvae at 2 dpf; repeated. Number of larvae assessed with similar results: tp53, n = 41; mdm2, n = 52; cdkn1a, n = 39. e Representative ventral images of Alcian blue staining of cartilage structures shows severe defects in cartilage development that become apparent at 3 dpf. Meckel’s cartilage, mc; palatoquadrate, pq; ceratohyal arch, ch; and ceratobranchial arches, cb. Number of larvae assessed with similar results: 2.5 dpf, n = 28; 3 dpf, n = 21; 4.5 dpf, n = 14. For all images: anterior, left; posterior, right. Scale bars; 200 μm.

Gene Expression Details
Gene Antibody Fish Conditions Stage Qualifier Anatomy Assay
cdkn1a WT control Long-pec Not Detected midbrain ISH
WT + MO1-fam50a control Long-pec midbrain ISH
EGFP knu3Tg control Long-pec brain IFL
Long-pec central nervous system IFL
Protruding-mouth brain IFL
Protruding-mouth central nervous system IFL
knu3Tg + MO1-fam50a control Long-pec brain IFL
Long-pec central nervous system IFL
Protruding-mouth brain IFL
Protruding-mouth central nervous system IFL
her4.1 WT control Long-pec brain ISH
Long-pec central nervous system ISH
Protruding-mouth brain ISH
Protruding-mouth central nervous system ISH
WT + MO1-fam50a control Long-pec brain ISH
Long-pec central nervous system ISH
Protruding-mouth brain ISH
Protruding-mouth central nervous system ISH
mdm2 WT control Long-pec Not Detected midbrain ISH
WT + MO1-fam50a control Long-pec midbrain ISH
tp53 WT control Long-pec Not Detected midbrain ISH
WT + MO1-fam50a control Long-pec midbrain ISH
Antibody Labeling Details No data available
Phenotype Details
Fish Conditions Stage Phenotype
WT + MO1-fam50a control Long-pec cranial cartilage organization quality, normal
Long-pec midbrain apoptotic process increased process quality, abnormal
Protruding-mouth brain her4.1 expression decreased amount, abnormal
Protruding-mouth central nervous system her4.1 expression decreased amount, abnormal
Protruding-mouth ceratobranchial cartilage deformed, abnormal
Protruding-mouth ceratohyal cartilage deformed, abnormal
Protruding-mouth Meckel's cartilage deformed, abnormal
Protruding-mouth palatoquadrate cartilage deformed, abnormal
Protruding-mouth whole organism morphology, normal
Day 4 ceratobranchial cartilage deformed, abnormal
Day 4 ceratohyal cartilage deformed, abnormal
Day 4 Meckel's cartilage deformed, abnormal
Day 4 palatoquadrate cartilage deformed, abnormal
Day 5 head morphology, abnormal
knu3Tg + MO1-fam50a control Protruding-mouth brain EGFP expression decreased amount, abnormal
Protruding-mouth central nervous system EGFP expression decreased amount, 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 @ Nat. Commun.