Article
A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus.
Human molecular genetics - 1 Oct 2011
Friedland-Little Joshua M, Hoffmann Andrew D, Ocbina Polloneal Jymmiel R, Peterson Mike A, Bosman Joshua D, Chen Yan, Cheng Steven Y, Anderson Kathryn V, Moskowitz Ivan P
Abstract excerpt
The primary cilium is emerging as a crucial regulator of signaling pathways central to vertebrate development and human disease. We identified atrioventricular canal 1 (avc1), a mouse mutation that caused VACTERL association with hydrocephalus, or VACTERL-H. We showed that avc1 is a hypomorphic m...
Topics
- Adaptor Proteins, Signal Transducing
- Alleles
- Anal Canal
- Animals
- Cilia
- Cytoskeletal Proteins
- Disease Models, Animal
- Esophagus
- Heart Defects, Congenital
- Hedgehog Proteins
- Humans
- Hydrocephalus
- Intracellular Signaling Peptides and Proteins