Fig. 2
SLC10A7 mutation consequences and Slc10a7 tissular expression. a, b Characterization of wild-type and mutant SLC10A7 proteins. HEK293F cells were transfected with plasmids encoding c-myc tagged wild-type SLC10A7 proteins or c-myc-tagged mutant SLC10A7 proteins from two different patients (Patient 1 and Patient 3). a Cells were immunostained with anti-c-Myc antibody (red) and nuclei were counterstained with DAPI (blue). Scale bars = 20 μm. The images are representative of three independent experiments. b Total cell lysates were analysed by western blotting using c-Myc antibody. Anti-actin was used as a loading control. The western blot images are cropped from gels that were provided for review as Supplementary Fig. 1d. c In situ hybridization analysis of Slc10a7 mRNA expression in E14.5 mouse embryos and P10 mouse tissues. The blue staining indicates sites of RNA hybridization. At E14.5, empty arrows indicate specific staining in cartilaginous tissues: Meckel cartilage (left panel) in the mandible and phalanges in the digits (central panel) and vertebrae (right panel). Note the positive staining in the lung on the right panel. At P10, filled arrows indicate specific staining in the hypertrophic zone of the growth plate in the digits (left panel), in the tarsals (central panel) and in the epiphysis of the humerus (right panel). Scale bars = 250 μm
