Xenbase Image ID: 159310

Figure 6: CPLANE gene mutations in human ciliopathies. (a) Pedigree showing WDPCP mutations in a patient with OFD. (b) The patient displays tongue hamartomas and dental anomalies. (c) When expressed in Xenopus embryos, the allele of human WDPCP encoding Asp54Ala produces less protein than the wild-type allele; the allele encoding Leu176Phefs*23 produces no protein. (d) Pedigree showing INTU mutations in an individual with SRPS. (e) X-ray of the affected individual. (f) Wild-type Xenopus Intu localizes to basal bodies, but the Xenopus cognate of human INTU Glu355* (Gln361*) fails to localize to basal bodies. Scale bars, 10 μm. (g,h) Expression of Xenopus Intu rescues Ift43 localization to basal bodies after Intu knockdown, but the Xenopus cognate of human INTU Glu550Ala (Xenopus Intu Glu506Ala; see Supplementary Fig. 6f) does not. Scale bars, 1 μm. Data shown in h are pooled from three independent experiments. *P < 0.05, ***P < 0.001; NS, not significant. Image published in: Toriyama M et al. (2016) Image downloaded from an Open Access article in PubMed Central. Image reproduced on Xenbase with permission of the publisher and the copyright holder. Larger Image Printer Friendly View

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