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A new mouse mutant for the LDL receptor identified using ENU mutagenesis.
Svenson, Karen L; Ahituv, Nadav; Durgin, Rebecca S; Savage, Holly; Magnani, Phyllis A; Foreman, Oded; Paigen, Beverly; Peters, Luanne L.
Afiliación
  • Svenson KL; The Jackson Laboratory, Bar Harbor, ME 04609, USA. ksven@jax.org
J Lipid Res ; 49(11): 2452-62, 2008 Nov.
Article en En | MEDLINE | ID: mdl-18632552
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.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores de LDL / Mutagénesis / Mutación Missense / Etilnitrosourea / Mutágenos Límite: Animals Idioma: En Revista: J Lipid Res Año: 2008 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores de LDL / Mutagénesis / Mutación Missense / Etilnitrosourea / Mutágenos Límite: Animals Idioma: En Revista: J Lipid Res Año: 2008 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos