Xenbase Image ID: 169880

Figure 6. CPLANE mutations in human ciliopathies(a) Pedigree showing WDPCP mutations in an OFD patient. (b) The patient displays tongue hamartomas and dental anomalies. (c) When expressed in Xenopus embryos, the D54A allele of human WDPCP produces less protein compared to wild-type; the L176F-fs26* allele produces no protein. (d) Pedigree showing INTU mutations in an SRPS phenotype. (e) X-ray of the patient. (f) The E355* allele of INTU disrupts basal body localization. (g and h) Wild-type Intu rescues Ift43 localization to basal bodies after Intu knockdown; the E500A allele of Intu does not. Data shown are pooled from three independent experiments. 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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