Phenotypes Associated with This Genotype

Genotype
MGI:3692745

• Allelic Composition: Gfap^tm2Mes/Gfap⁺
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * FVB/N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

growth/size/body

decreased body size ( J:114689 )

• exhibit a more significant difference in body weight than heterozygous Gfap^tm1Hgmn mutants

nervous system

increased susceptibility to pharmacologically induced seizures ( J:114689 )

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

abnormal brain iron level ( J:114689 )

• exhibit iron accumulation in the hypertrophic astrocytes of the corpus callosum

abnormal astrocyte morphology ( J:114689 )

• 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 Gfap^tm1Hgmn 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

gliosis ( J:114689 )

homeostasis/metabolism

abnormal brain iron level ( J:114689 )

• exhibit iron accumulation in the hypertrophic astrocytes of the corpus callosum

behavior/neurological

increased susceptibility to pharmacologically induced seizures ( J:114689 )

• 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		DO ID	OMIM ID(s)	Ref(s)
Alexander disease		DOID:4252	OMIM:203450	J:114689