title: GFAP: functional implications gleaned from studies of genetically engineered mice.
abstract: GFAP is the major intermediate filament of mature astrocytes, and its relatively specific expression in these cells suggests an important function. To study the role of the GFAP gene, mice have been created carrying null alleles (no protein), modified alleles (altered protein), or added wild type alleles (elevated protein). Surprisingly, absence of GFAP has relatively subtle effects on development. On the other hand, over-expression can be lethal, and led to the discovery that GFAP coding mutations are responsible for most cases of Alexander disease, a devastating neurodegenerative disorder. Here we review what the various GFAP mouse models reveal about GFAP and astrocyte function.
authors.affiliation: Department of Pathobiological Sciences, Waisman Center and School of Veterinary Medicine; University of Wisconsin, Madison, Wisconsin.
authors.forename: Albee
authors.initials: A
authors.lastname: Messing
authors.affiliation: Departments of Neurobiology and Physical Medicine and Rehabilitation, University of Alabama, Birmingham, Alabama.|Civitan International Research Center; University of Alabama, Birmingham, Alabama.
authors.forename: Michael
authors.initials: M
authors.lastname: Brenner
mesh_terms: D038261:Alexander Disease / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D000818:Animals; D001253:Astrocytes / Q000378:metabolism* / Q000473:pathology; D001921:Brain / Q000254:growth & development* / Q000473:pathology / Q000503:physiopathology; D004195:Disease Models, Animal; D005818:Genetic Engineering / Q000639:trends; D005904:Glial Fibrillary Acidic Protein / Q000172:deficiency* / Q000235:genetics*; D005911:Gliosis / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D007382:Intermediate Filaments / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D051379:Mice; D008822:Mice, Transgenic
chemical_list: D005904:Glial Fibrillary Acidic Protein