GFAP: functional implications gleaned from studies of genetically engineered mice.
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.
Messing
Albee
A
Department of Pathobiological Sciences, Waisman Center and School of Veterinary Medicine; University of Wisconsin, Madison, Wisconsin.
Brenner
Michael
M
Departments of Neurobiology and Physical Medicine and Rehabilitation, University of Alabama, Birmingham, Alabama.|Civitan International Research Center; University of Alabama, Birmingham, Alabama.
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
D005904:Glial Fibrillary Acidic Protein