Related Experiment Video
Updated: Jul 16, 2026
Visualization of Craniofacial Development in the sox10: kaede Transgenic Zebrafish Line Using Time-lapse Confocal Microscopy
Published on: September 30, 2013
Full Spectrum of Postnatal Tooth Phenotypes in a Novel Irf6 Cleft Lip Model
1Department of Oral Health Sciences, University of Washington, Seattle, WA, USA Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.
Cleft lip and palate (CLP) gene Irf6 plays a crucial role in tooth development, affecting tooth number, shape, and enamel formation. This research highlights potential links between CLP and isolated dental defects.
Area of Science:
- Developmental Biology
- Genetics
- Oral Biology
Background:
- Cleft lip with or without palate (CLP) is linked to dental abnormalities, but the genetic mechanisms are unclear.
- Cleft lip and palate (CLP) genes, like Irf6, are expressed in oral epithelium, suggesting a potential role in tooth development.
Purpose of the Study:
- To investigate the role of the major cleft lip and palate (CLP) gene, Irf6, in tooth patterning and amelogenesis.
- To generate a dental epithelium-specific Irf6 conditional knockout (Irf6-cKO) mouse model to study posteruption dental phenotypes.
Main Methods:
- Generated a dental epithelium-specific Irf6 conditional knockout (Irf6-cKO) mouse model using a Pitx2-Cre driver line.
- Analyzed dental development using microcomputed tomography, scanning electron microscopy, histology, immunohistochemistry, and qPCR.
Main Results:
- Irf6-cKO mice exhibited hypodontia, supernumerary teeth, and anomalies in crown and root morphology (e.g., peg-shaped, taurodontic, C-shaped teeth).
- Reduced enamel density, enamel rod shearing, rapid molar attrition, and disturbances in ameloblast adhesion and polarity were observed.
- Altered Hertwig's epithelial root sheath structure and delayed enamel formation were confirmed.
Conclusions:
- IRF6 plays a significant role in tooth number, crown and root morphology, and amelogenesis, likely through epithelial cell organization and polarity.
- Isolated tooth defects may be considered part of the cleft lip and palate (CLP) spectrum in affected individuals' relatives.
