- Title
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TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
- Authors
- Schmidts, M., Hou, Y., Cortés, C.R., Mans, D.A., Huber, C., Boldt, K., Patel, M., van Reeuwijk, J., Plaza, J.M., van Beersum, S.E., Yap, Z.M., Letteboer, S.J., Taylor, S.P., Herridge, W., Johnson, C.A., Scambler, P.J., Ueffing, M., Kayserili, H., Krakow, D., King, S.M., Beales, P.L., Al-Gazali, L., Wicking, C., Cormier-Daire, V., Roepman, R., Mitchison, H.M., Witman, G.B.
- Source
- Full text @ Nat. Commun.
Knockdown of tctex1d2 in zebrafish leads to a typical ciliopathy phenotype. Whole-mount light microscopy showing control morpholino (mo)-injected embryos (a–d) and tctex1d2 morphants at 4 days post fertilization (e–h). Compared with controls, knockdown of tctex1d2 results in ventrally curved body axis (a,e), small eyes (b,f), pronephric cysts (c,g) and otolith defects (d,h). Alcian blue staining of cartilage identifies craniofacial cartilage defects in tctexd2 morphants (m,n) compared with controls (i,j). Immunofluorescence analysis after staining of cilia at 24 h.p.f. with anti-acetylated tubulin antibody reveals shorter cilia in the pronephric duct of tctex1d2 morphants (o, magnified in p) compared with control embryos (k, magnified in l); however, this difference was no longer evident at 48 h.p.f. (data not shown). Scale bars, 100 μm (a–j,m,n) or 50 μm (k,l,o,p). |
Ciliogenesis appears undisturbed in tctex1d2 morphant neural tube. The appearance of neural tube cilia in control-morpholino (a, b) and tctex1d2-morpholino (c, d) injected zebrafish embryos was similar at 24hpf using whole mount confocal microscopy after staining with anti-acetylated tubulin antibody and DAPI (see online methods for details). Scale bar 10 μm. PHENOTYPE:
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