Mouse Genome Informatics
cn1
    Emx1tm1.1(cre)Ito/Emx1+
Tg(Gfap-GFAP*R239H)60TMIke/0

involves: 129P2/OlaHsd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• frequency of severe convulsions is higher than in controls but mortality is similar to controls following with 20 mg kainate/kg

nervous system
• frequency of severe convulsions is higher than in controls but mortality is similar to controls following with 20 mg kainate/kg


Mouse Genome Informatics
tg2
    Tg(Gfap-GFAP*R239H)60TMIke/0
involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
N
• unlike patients with Alexander disease, megalencephaly is not detected (J:139349)
• 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 (J:139349)
• 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 IDRef(s)
Alexander Disease 203450 J:138318 , J:139349