FIGURE

Figure 6

ID

ZDB-FIG-210531-10

Publication

Mathieu et al., 2021 - Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family

Other Figures

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Figure 6

Effect of ttll11-mut in zebrafish body axis and lethality. (A) Sequence obtain by Sanger sequencing of the mut-ttll11 zebrafish (left panel, lower chromatogram) compared to WT (left panel, upper chromatogram) and protein consequences (right panel). (B) Mut-ttll11 display different type of 3D curvature of the body axis in 8 days old mut-ttll11 zebrafish. (C) Incidence of scoliosis phenotype in 8 days old mut-ttll11 zebrafish. 6% of the mut-ttll11 zebrafish show a 3D curvature of the body axis. n = 250. (D) Lethality of scoliosis phenotype in 8 days old mut-ttll11 zebrafish. All the mut-ttll11 zebrafish expressing 3D curvature died after 2 weeks, 20% the first week and 80% the second week. All the WT and mut-ttll11 no curved were alive after 2 weeks. n = 15. (E) lateral view (left panels) of WT, mut-ttll11 and mut-ttll11 with scoliosis adult zebrafish. MicroCT lateral (middle panels) and dorsal (right panels) images reveal a 3D curvature for the mut-ttll11 with scoliosis fish compared to WT and mut-ttll11 without scoliosis phenotype.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Fish:	ttll11^{zf3547/zf3547}
Observed In:	post-vent region vertebral column whole organism
Stage Range:	Days 7-13 to Adult

Phenotype Detail

Acknowledgments

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