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 mutation of intraflagellar transport protein 172 (Ift172), required for ciliogenesis and Hedgehog (Hh) signaling....
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