Fig. 4

SLC10A7 deficiency leads to enamel anomalies in human and in mice. a Intra-oral photography of Patient 4 at 9 years of age showing hypomineralized amelogenesis imperfecta (left panel). X-ray panoramic of Patient 5 at 6 years of age showing absence of enamel radiolucency corresponding to amelogenesis imperfecta associated with severe oligodontia (right panel). b Three-dimensional reconstruction of mandibles from μCT analysis of 8-week-old mouse skulls and volume measurement of mandibles, lower incisors and lower molars at 8 weeks. Scale bars = 1 mm. Data are expressed as mean ± SD. NS, nonsignificant; ****p ≤ 0.0001 (two-tailed t-test). n = 7 (Slc10a7^+/+), n = 7 (Slc10a7^+/−) and n = 6 (Slc10a7^−/−). c Scanning electron microscopy of mandible incisor from Slc10a7^+/+ and Slc10a7^−/− mice. Low magnification (left panels) shows conservation of enamel morphology but decreased thickness in Slc10a7^−/− mice. The boxed areas in the left panels are shown at higher magnification (middle and right panels). In Slc10a7^−/− mouse enamel, the aprismatic layer was absent and the external prismatic layer was altered giving a rough aspect to the enamel surface (middle panels: arrows indicate hole in the external prismatic layer; a = aprismatic enamel layer, ep = external prismatic layer, ip = internal prismatic layer). High magnification of internal prismatic enamel shows absence of a well-defined prismatic pattern in Slc10a7^−/− mice, with fused rods and inter-rod structures (right panels; r = rod, ir = inter-rod). Scale bars = 20 μm. These images represent three incisors analysed