FIGURE

Fig. 5

ID

ZDB-FIG-200730-6

Publication

Lee et al., 2020 - Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

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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.

Expression Data

Genes:	eftud2 eif4a3 ice1 prpf3 prpf4 prpf6 prpf8 prpf31 sf3b4 snapc4 snrnp200 snrpe
Fish:	WT fam50a^{ck125a/ck125a}
Anatomical Term:	head
Stage:	Protruding-mouth

Expression Detail

Antibody Labeling

Phenotype Data

Fish:	fam50a^{ck125a/ck125a}
Observed In:	head
Stage:	Protruding-mouth

Phenotype Detail

Acknowledgments

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