Article
Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice.
Nature genetics - 1 Jan 2002
Colmenares Clemencia, Heilstedt Heidi A, Shaffer Lisa G, Schwartz Stuart, Berk Michael, Murray Jeffrey C, Stavnezer Ed
Abstract excerpt
Experiments involving overexpression of Ski have suggested that this gene is involved in neural tube development and muscle differentiation. In agreement with these findings, Ski-/- mice display a cranial neural tube defect that results in exencephaly and a marked reduction in skeletal muscle mass. Here we show that the penetrance and expressivity of the phenotype changes when the null mutation is backcrossed...
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