Gfap or glial fibrillary acidic protein is a major intermediate filament protein found in mature astrocytes. An amino acid substitution, R79H, found in Gfap is associated with Alexander disease (AxD), a rare disorder of astrocytes. This knockin strain carries the corresponding mutation in the mouse, R76H in exon 1. Homozygous mice are viable and fertile. Both heterozygous and homozygous mice exhibit Rosenthal fibers, the hallmark protein aggregates found in astrocytes from the hippocampus, corpus callosum, olfactory bulbs and periventricular regions. Other similarities include an increase in antioxidant response element (ARE) activation and in both soluble and insoluble GFAP, however, the mouse pathology more closely resembles adult AxD rather than the more severe infantile AxD. This strain may be useful for studying Alexander disease.

These knockin mice carry an amino acid substitution, R76H in exon 1of the Gfap gene. Mutations in Gfap or glial fibrillary acidic protein, are associated with Alexander disease (AxD), a rare disorder of astrocytes.

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.