Article
The pleiotropic mouse phenotype extra-toes spotting is caused by translation initiation factor Eif3c mutations and is associated with disrupted sonic hedgehog signaling.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 May 2011
Gildea Derek E, Luetkemeier Erin S, Bao Xiaozhong, Loftus Stacie K, Mackem Susan, Yang Yingzi, Pavan William J, Biesecker Leslie G
Abstract excerpt
Polydactyly is a common malformation and can be an isolated anomaly or part of a pleiotropic syndrome. The elucidation of the mutated genes that cause polydactyly provides insight into limb development pathways. The extra-toes spotting (Xs) mouse phenotype manifests anterior polydactyly, predominantly in the forelimbs, with ventral hypopigmenation. The mapping of Xs(J) to chromosome 7 was confirmed, and the...
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