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Updated: May 2, 2026
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Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography
Published on: January 17, 2025
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Craniofacial shape variation in Twist1+/- mutant mice.
Trish E Parsons1, Seth M Weinberg, Kameron Khaksarfard
1Department of Oral Biology, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania.
Anatomical Record (Hoboken, N.J. : 2007)
|March 4, 2014
Summary
Partial loss of the TWIST1 gene in mice causes consistent craniofacial changes, including an abnormal skull shape and facial structure, mimicking human craniosynostosis (CS) phenotypes.
Area of Science:
- Genetics
- Developmental Biology
- Craniofacial Biology
Background:
- Craniosynostosis (CS) is a birth defect from premature cranial suture fusion.
- The TWIST1 gene is linked to syndromic and nonsyndromic CS in humans.
Purpose of the Study:
- To investigate craniofacial shape changes in a heterozygous Twist1 knock out mouse model.
- To analyze the effects of partial Twist1 gene loss on skull development.
Main Methods:
- Utilized a heterozygous Twist1 knock out (Twist1(+/-)) mouse model.
- Employed geometric morphometrics on microcomputed tomography scan data.
- Compared craniofacial shape between 17 Twist1(+/-) mice and 26 wild-type controls at 15 days of age.
Main Results:
- Twist1(+/-) mice exhibited a consistent pattern of craniofacial dysmorphology across all skull regions.
- Observed acrocephalic and brachycephalic calvarium shape, shortened cranial base, and a wider, shorter face.
- Phenotypes were consistent with Saethre-Chotzen syndrome and coronal CS.
Conclusions:
- The craniofacial dysmorphology in Twist1(+/-) mice is likely a direct result of Twist1 haploinsufficiency.
- This study provides a quantitative phenotype for Twist1 research.
- Results can inform future hypotheses on Twist1 function and premature suture fusion.
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