FIGURE

Fig. 2

ID

ZDB-FIG-241209-2

Publication

Park et al., 2024 - RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model

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Fig. 2

Generation of rfc2 KO and rfc5 KO zebrafish using CRISPR-Cas9. A: Expression of rfc2 or rfc5 mRNAs in zebrafish embryos at 2 dpf. Lateral and dorsal view, anterior is to the left. Both genes are expressed in mb, mhb, hb, and eyes. B: Schematic gene structure of zebrafish rfc2 and rfc5 with KO target sites (arrows), exon 1 of rfc2 and exon 3 of rfc5. Indel mutations include 20-bp insertion (+22 bp, −2 bp) in rfc2 (named rfc2^ck179a) and 8-bp deletion in rfc5 (named rfc5^ck171a). C: Predicted protein structure of each KO mutation, resulting in truncated proteins caused by frameshift. D: Loss of rfc2 or rfc5 mRNA expression in each KO zebrafish at 2 dpf. Dorsal view. n = 12 for rfc2 WT, n = 17 for rfc2 KO, n = 12 for rfc5 WT, and n = 9 for rfc5 KO. Scale bar, 200 μm (A and D). mb, midbrain; mhb, midbrain-hindbrain boundary; hb, hindbrain; WT, wild-type; KO, knockout; dpf, days post fertilization; AAA, AAA⁺ ATPase domain; Repl C, Replication factor C C-terminal domain; pa, pharyngeal arches; in, intestine.

Expression Data

Genes:	rfc2 rfc5
Fish:	WT rfc2^{ck179a/ck179a} rfc5^{ck171a/ck171a}
Anatomical Terms:	eye hindbrain intestine midbrain midbrain hindbrain boundary pharyngeal arch
Stage:	Long-pec

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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Reprinted from Journal of genetics and genomics = Yi chuan xue bao, 51(12), Park, J.W., Choi, T.I., Kim, T.Y., Lee, Y.R., Don, D.W., George-Abraham, J.K., Robak, L.A., Trandafir, C.C., Liu, P., Rosenfeld, J.A., Kim, T.H., Petit, F., Kim, Y.M., Cheon, C.K., Lee, Y., Kim, C.H., RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model, 1389-1403, Copyright (2024) with permission from Elsevier. Full text @ J. Genet. Genomics