Related Experiment Video
Updated: May 12, 2026
10:03
Tissue Preparation and Immunostaining of Mouse Craniofacial Tissues and Undecalcified Bone
Published on: May 10, 2019
Wnt5a gain- and loss-of-function in bone have distinct craniofacial phenotypes.
Claire J Houchen1, Portia Hahn Leat1, Cassandra Delich1
1School of Dentistry, University of Missouri-Kansas City, Kansas City, MO 64108, United States.
JBMR Plus
|May 11, 2026
Summary
Altering Wnt5a in mice causes craniofacial and dental issues. Precise Wnt5a regulation is crucial for proper development, with both loss- and gain-of-function mutations leading to distinct developmental abnormalities.
Area of Science:
- Developmental Biology
- Genetics
- Craniofacial Biology
Background:
- Robinow syndrome is linked to WNT5A variants, causing craniofacial and dental abnormalities.
- The precise role of Wnt5a in craniofacial and dental development remains unclear.
- Wnt5a signaling is critical in non-canonical pathways affecting cellular processes.
Purpose of the Study:
- To investigate the role of Wnt5a in bone during craniofacial and dental development.
- To determine the effects of Wnt5a loss-of-function (LOF) and gain-of-function (GOF) in bone cells.
- To understand the relationship between Wnt5a dosage and craniofacial/dental phenotypes.
Main Methods:
- Utilized conditional Wnt5a LOF (Wnt5afl/fl;Ctskcre) and GOF (Rosa26-LSL-Wnt5a;Ctskcre) mouse models.
- Analyzed skulls using micro-CT, traditional, and geometric morphometrics.
- Assessed mandibular bone apoptosis via TUNEL staining.
Main Results:
- Wnt5a LOF caused midface hypoplasia, wider maxilla, and delayed molar eruption.
- Wnt5a GOF led to macrocephaly, shortened palate, micrognathia, and mandibular dysmorphology.
- Both LOF and GOF resulted in partially penetrant snout deviation; GOF micrognathia was not due to increased apoptosis.
Conclusions:
- Craniofacial and dental phenotypes differ significantly between Wnt5a LOF and GOF, reflecting Robinow syndrome heterogeneity.
- Identified novel phenotypes including tooth eruption delay, condyle dysmorphology, and facial asymmetry in altered Wnt5a models.
- Precise regulation of Wnt5a is essential for normal craniofacial and dental development.
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