Thrombycytopenia and kidney disease in mice with a mutation in the C1galt1 gene
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; Kile, Benjamin T; Nicola, Nicos A; Roberts, Andrew A; Hilton, Douglas J
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-β-galactosyltransferase (C1GalT1), an enzyme essential for the synthesis of extended mucin-type O-glycans. Platelet half-life and basic hemostatic parameters were unaffected in...[Show more]
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