Fig. 6: Disruption of the EDA·A1_THD-EDAR_CRDS interaction results in ectodermal dysplasia in mice.

a The Eda mutant male mice were analyzed for their ectodermal derivatives. The Eda^ko/Y mice showed the most severe defects characterized by hairless tails and abdomen, kinked tail tips, a bald patch behind ears and abnormal eyelid development. The phenotype of the Eda^D265G/Y mice was slightly milder than that of the Eda^ko/Y mice, showing scanty abdomen hair and ear hair, but with normal tail hair and tips. The Eda^A259E/Y and Eda^R276C/Y mutant mice exhibited no obvious abnormalities in the ectodermal derivatives mentioned above. b Representative radiographic images of lower molars from WT and mutant Eda mice. White arrows indicate “bull-shaped” taurodontism teeth with a large pulp cavity. M1, M2, M3: first, second, third molar. Scale bar: 1 mm. c Quantification of the taurodontism phenotype in Eda mutant mice. Left: Schematic diagram of the taurodontism phenotype. Taurodontism is characterized by an elongation of the pulp chamber extending into the root area. A, pulp roof; B, pulp floor; C, apex of the longest tooth root; D, enamel-cemental junction. Right: Quantification of taurodontism phenotype. Data are presented as the mean ± SD for n = 7 adult (about 6-week old) male mice per group. A two-sided Student’s t-test was performed. ***P = 8.7E−07 (AB/AC, D265G), ***P = 2.7E−06 (AB/AC, KO), ***P = 2.8E−05 (BD, D265G) and ***P = 2.4E−05 (BD, KO). Source data are provided as a Source Data file.