Fig. 1.
Cross-species phenotype comparisons using PhenoDigm identify an animal model for Craniosynostosis, type 1. Craniosynostosis, type 1 (OMIM:123100) is already known to be associated with mutations in TWIST1 (top panel). The bottom left panel reveals that mouse mutants of Twist1 represent a good phenotypic match to the clinical signs of this disease. The bottom right-hand panel shows the scores and evidence for different mouse mutants involving Twist1, allowing researchers to follow the Order online link to obtain the most relevant mouse strain for further mechanistic studies or therapeutic development