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Phenotypes Associated with This Genotype
Genotype
MGI:3809245
Allelic
Composition
Tg(Gfap-GFAP*R239H)60TMIke/0
Genetic
Background
involves: C57BL/6J
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phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• unlike patients with Alexander disease, megalencephaly is not detected
• increased frequency of severe convulsions and mortality following treatment with 20 mg kainate/kg compared to controls
• however sensitivity to pentylenetetrazole pilocarpine, or 4-aminopyridine induced seizures is similar to controls
• following noise exposure, cochlear hair cell loss and degeneration is increased compared to controls
• develop Rosenthal fibers in areas of the brain where GFAP aggregates are detected, such as the hippocampus
• GFAP aggregates are present in the cochlear nerve

hearing/vestibular/ear
• following noise exposure, cochlear hair cell loss and degeneration is increased compared to controls
• more pronounced hearing loss at 4kHz is seen in 5 week old mutants at 1 and 4 weeks after noise exposure
• following noise exposure, in response to click stimulus ABR peaks disappear from wave I and changes in the intensity-latency function indicate cochlear damage

behavior/neurological
N
• unlike patients with Alexander disease, spontaneous convulsions are not observed
• increased frequency of severe convulsions and mortality following treatment with 20 mg kainate/kg compared to controls
• however sensitivity to pentylenetetrazole pilocarpine, or 4-aminopyridine induced seizures is similar to controls

Mouse Models of Human Disease
OMIM ID Ref(s)
Alexander Disease; ALXDRD 203450 J:138318 , J:139349


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory