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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(Gfap-GFAP*R239H)60TMIke
transgene insertion 60TM, Kazuhiro Ikenaka
MGI:3809243
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Emx1tm1.1(cre)Ito/Emx1+
Tg(Gfap-GFAP*R239H)60TMIke/0
involves: 129P2/OlaHsd * C57BL/6J MGI:3809246
tg2
Tg(Gfap-GFAP*R239H)60TMIke/0 involves: C57BL/6J MGI:3809245


Genotype
MGI:3809246
cn1
Allelic
Composition
Emx1tm1.1(cre)Ito/Emx1+
Tg(Gfap-GFAP*R239H)60TMIke/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1.1(cre)Ito mutation (1 available); any Emx1 mutation (19 available)
Tg(Gfap-GFAP*R239H)60TMIke mutation (0 available)
phenotype observed in females
phenotype observed in males
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




Genotype
MGI:3809245
tg2
Allelic
Composition
Tg(Gfap-GFAP*R239H)60TMIke/0
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
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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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory