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Publication : A new mouse mutant for the LDL receptor identified using ENU mutagenesis.

First Author  Svenson KL Year  2008
Journal  J Lipid Res Volume  49
Issue  11 Pages  2452-62
PubMed ID  18632552 Mgi Jnum  J:140060
Mgi Id  MGI:3811690 Doi  10.1194/jlr.M800303-JLR200
Citation  Svenson KL, et al. (2008) A new mouse mutant for the LDL receptor identified using ENU mutagenesis. J Lipid Res 49(11):2452-62
abstractText  In an effort to discover new mouse models of cardiovascular disease using N-ethyl-N-nitrosourea (ENU) mutagenesis followed by high-throughput phenotyping, we have identified a new mouse mutation, C699Y, in the LDL receptor (Ldlr), named wicked high cholesterol (WHC). When WHC was compared with the widely used Ldlr knockout (KO) mouse, notable phenotypic differences between strains were observed, such as accelerated atherosclerotic lesion formation and reduced hepatosteatosis in the ENU mutant after a short exposure to an atherogenic diet. This loss-of-function mouse model carries a single base mutation in the Ldlr gene on an otherwise pure C57BL/6J (B6) genetic background, making it a useful new tool for understanding the pathophysiology of atherosclerosis and for evaluating additional genetic modifiers regulating hyperlipidemia and atherogenesis. Further investigation of genomic differences between the ENU mutant and KO strains may reveal previously unappreciated sequence functionality.
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