ZFIN ID: ZDB-FIG-200730-6
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:
Anatomical Term:
Stage: Protruding-mouth
PHENOTYPE:
Fish:
Observed In:
Stage: Protruding-mouth

Fig. 5 Major spliceosome effectors are upregulated in <italic>fam50a</italic> KO zebrafish.

Representative lateral images of whole-mount in situ hybridization performed on 3 day post-fertilization larvae validate RNA-seq data (Table 2) from fam50a KO (homozygous mutant) vs wild-type (WT). Number of embryos assessed with similar results: prpf3, n = 11; prpf4, n = 10; prpf6, n = 11; prpf8, n = 10; prpf31, n = 11; eftud2, n = 10; snrnp200, n = 11; sf3b4, n = 11; snrpe, n = 11; eif4a3, n = 9; snapc4, n = 11; ice1, n = 10. Scale bars; 200 μm.

Gene Expression Details
Gene Antibody Fish Conditions Stage Anatomy Assay
eftud2 WT standard conditions Protruding-mouth head ISH
fam50ack125a/ck125a standard conditions Protruding-mouth head ISH
eif4a3 WT standard conditions Protruding-mouth head ISH
fam50ack125a/ck125a standard conditions Protruding-mouth head ISH
ice1 WT standard conditions Protruding-mouth head ISH
fam50ack125a/ck125a standard conditions Protruding-mouth head ISH
prpf3 WT standard conditions Protruding-mouth head ISH
fam50ack125a/ck125a standard conditions Protruding-mouth head ISH
prpf4 WT standard conditions Protruding-mouth head ISH
fam50ack125a/ck125a standard conditions Protruding-mouth head ISH
prpf6 WT standard conditions Protruding-mouth head ISH
fam50ack125a/ck125a standard conditions Protruding-mouth head ISH
prpf8 WT standard conditions Protruding-mouth head ISH
fam50ack125a/ck125a standard conditions Protruding-mouth head ISH
prpf31 WT standard conditions Protruding-mouth head ISH
fam50ack125a/ck125a standard conditions Protruding-mouth head ISH
sf3b4 WT standard conditions Protruding-mouth head ISH
fam50ack125a/ck125a standard conditions Protruding-mouth head ISH
snapc4 WT standard conditions Protruding-mouth head ISH
fam50ack125a/ck125a standard conditions Protruding-mouth head ISH
snrnp200 WT standard conditions Protruding-mouth head ISH
fam50ack125a/ck125a standard conditions Protruding-mouth head ISH
snrpe WT standard conditions Protruding-mouth head ISH
fam50ack125a/ck125a standard conditions Protruding-mouth head ISH
Antibody Labeling Details No data available
Phenotype Details
Fish Conditions Stage Phenotype
fam50ack125a/ck125a standard conditions Protruding-mouth head eftud2 expression increased amount, abnormal
Protruding-mouth head eif4a3 expression increased amount, abnormal
Protruding-mouth head ice1 expression increased amount, abnormal
Protruding-mouth head prpf31 expression increased amount, abnormal
Protruding-mouth head prpf3 expression increased amount, abnormal
Protruding-mouth head prpf4 expression increased amount, abnormal
Protruding-mouth head prpf6 expression increased amount, abnormal
Protruding-mouth head prpf8 expression increased amount, abnormal
Protruding-mouth head sf3b4 expression increased amount, abnormal
Protruding-mouth head snapc4 expression increased amount, abnormal
Protruding-mouth head snrnp200 expression increased amount, abnormal
Protruding-mouth head snrpe expression increased 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.