Cilia
- A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice
Summary: The Spag17pcdo mouse model closely recapitulates the human central pair primary ciliary dyskinesia condition, and the data here reinforce the power of the hypomorphic allele in representing human conditions.
- Lack of whey acidic protein (WAP) four-disulfide core domain protease inhibitor 2 (WFDC2) causes neonatal death from respiratory failure in mice
Summary: Wfdc2 is vitally important in preventing atelectasis and dysfunction of barrier mechanisms such as mucociliary clearance, intercellular junction formation and anti-inflammatory activity.
- Functional loss of Ccdc151 leads to hydrocephalus in a mouse model of primary ciliary dyskinesia
Summary: Ccdc151-knockout mice develop PCD with hydrocephalus, situs abnormalities and male infertility. Novel 3D microCT imaging analysis of the Ccdc151-lacZ reporter gene demonstrates Ccdc151 expression in ependymal cells.