Mouse Genome Informatics
ht
    Gfaptm2Hgmn/Gfap+
involves: 129S6/SvEvTac * 129S7/SvEvBrd * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
growth/size
• exhibit a more significant difference in body weight than heterozygous Gfaptm1Hgmn mutants

nervous system
• show increased sensitivity to kainate induced-seizures, with 50% compared to 10% of wild-type developing severe seizures and increased lethality over wild-type
• exhibit iron accumulation in the hypertrophic astrocytes of the corpus callosum
• develop Rosenthal fibers, especially within the hippocampus, olfactory bulb, corpus callosum, and rostral extension, as well as in subpial, perivascular and periventricular regions
• exhibit more Rosenthal fibers than seen in heterozygous Gfaptm1Hgmn mutants
• Rosenthal fibers are apparent at the pial surfaces of the brainstem and ventral midbrain and forebrain as early as P7
• astrocytes appear hypertrophic in the above regions at 3 months of age

homeostasis/metabolism
• exhibit iron accumulation in the hypertrophic astrocytes of the corpus callosum

behavior/neurological
• show increased sensitivity to kainate induced-seizures, with 50% compared to 10% of wild-type developing severe seizures and increased lethality over wild-type

Mouse Models of Human Disease
OMIM IDRef(s)
Alexander Disease 203450 J:114689