Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome.

Document Type


Publication Date



Animals, Disease-Models-Animal, Extremities, Heterozygote, Mice, Mice-Inbred-C57BL, Mice-Mutant-Strains, Nuclear-Proteins, Skull, Transcription-Factors, Twist-Transcription-Factor

JAX Source

Anat Rec 2002 Oct; 268(2):90-2.


Saethre-Chotzen syndrome is a common autosomal dominant form of craniosynostosis, the premature fusion of the sutures of the calvarial bones of the skull. Most Saethre-Chotzen syndrome cases are caused by haploinsufficiency for the TWIST gene. Mice heterozygous for a null mutation of the Twist gene replicate certain features of Saethre-Chotzen syndrome, but have not been reported to exhibit craniosynostosis. We demonstrate that Twist heterozygous mice exhibit fusions of the coronal suture and other cranial suture abnormalities, indicating that Twist heterozygous mice constitute a better animal model for Saethre-Chotzen syndrome than was previously appreciated.