Article
Thrombocytopenia and kidney disease in mice with a mutation in the C1galt1 gene.
Proceedings of the National Academy of Sciences of the United States of America - 31 Oct 2006
Alexander Warren S, Viney Elizabeth M, Zhang Jian-Guo, Metcalf Donald, Kauppi Maria, Hyland Craig D, Carpinelli Marina R, Stevenson William, Croker Ben A, Hilton Adrienne A, Ellis Sarah, Selan Carly, Nandurkar Harshal H, Goodnow Christopher C, Kile Benjamin T, Nicola Nicos A, Roberts Andrew W, Hilton Douglas J
Abstract excerpt
An N-ethyl-N-nitrosourea mutagenesis screen in mice was performed to isolate regulators of circulating platelet number. We report here recessive thrombocytopenia and kidney disease in plt1 mice, which is the result of a severe but partial loss-of-function mutation in the gene encoding glycoprotein-N-acetylgalactosamine-3-beta-galactosyltransferase (C1GalT1), an enzyme essential for the synthesis of extended...
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