title: Mouse models of laminopathies.
abstract: The A- and B-type lamins are nuclear intermediate filament proteins in eukaryotic cells with a broad range of functions, including the organization of nuclear architecture and interaction with proteins in many cellular functions. Over 180 disease-causing mutations, termed 'laminopathies,' have been mapped throughout LMNA, the gene for A-type lamins in humans. Laminopathies can range from muscular dystrophies, cardiomyopathy, to Hutchinson-Gilford progeria syndrome. A number of mouse lines carrying some of the same mutations as those resulting in human diseases have been established. These LMNA-related mouse models have provided valuable insights into the functions of lamin A biogenesis and the roles of individual A-type lamins during tissue development. This review groups these LMNA-related mouse models into three categories: null mutants, point mutants, and progeroid mutants. We compare their phenotypes and discuss their potential implications in laminopathies and aging.
authors.affiliation: Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD 20742, USA.
authors.forename: Haoyue
authors.initials: H
authors.lastname: Zhang
authors.forename: Julia E
authors.initials: JE
authors.lastname: Kieckhaefer
authors.forename: Kan
authors.initials: K
authors.lastname: Cao
mesh_terms: D000375:Aging / Q000235:genetics / Q000378:metabolism*; D000818:Animals; D004195:Disease Models, Animal; D006801:Humans; D034882:Lamins / Q000235:genetics / Q000378:metabolism*; D051379:Mice; D009154:Mutation
chemical_list: D034882:Lamins