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Phenotypes Associated with This Genotype
Genotype
MGI:3692745
Allelic
Composition
Gfaptm2Mes/Gfap+
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gfaptm2Mes mutation (2 available); any Gfap mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• 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 ID Ref(s)
Alexander Disease; ALXDRD 203450 J:114689


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory