FIGURE

Fig. 2

ID

ZDB-FIG-250724-55

Publication

Liu et al., 2025 - Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasia

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Fig. 2

Modeling the human TBC1D23 c.511_512delTT variant in zebrafish reveals evidence of NMD. (A) Schematic of the human TBC1D23 gene. The novel c.511_512delTT variant and resulting PTC (p.F171Qfs*8) are highlighted in red. (B) CRISPR-Cas9 strategy used to create an equivalent frameshift and PTC in the zebrafish tbc1d23 orthologue. (C) Sanger sequencing confirms the indel in mutant (MT) zebrafish. The sgRNA target is boxed (D) qRT-PCR analysis at 3 dpf shows significantly reduced tbc1d23 mRNA levels in heterozygous (HE) and homozygous (HO) mutants compared to wild-type (WT), consistent with NMD activation. Data are mean ± SEM (n = 3); ***P < 0.001 (one-way ANOVA)

Expression Data

Gene:	tbc1d23
Fish:	AB tbc1d23^{zf4380/zf4380} (AB) tbc1d23^zf4380/+ (AB)
Anatomical Term:	whole organism
Stage:	Protruding-mouth

Expression Detail

Antibody Labeling

Phenotype Data

Fish:	tbc1d23^{zf4380/zf4380} (AB) tbc1d23^zf4380/+ (AB)
Observed In:	whole organism
Stage:	Protruding-mouth

Phenotype Detail

Acknowledgments

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