Analysis Tools|
Allele Symbol Allele Name Allele ID |
Tg(Gfap-GFAP*R239H)60TMIke transgene insertion 60TM, Kazuhiro Ikenaka MGI:3809243 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• frequency of severe convulsions is higher than in controls but mortality is similar to controls following with 20 mg kainate/kg
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• frequency of severe convulsions is higher than in controls but mortality is similar to controls following with 20 mg kainate/kg
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• unlike patients with Alexander disease, megalencephaly is not detected
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• 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
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• following noise exposure, cochlear hair cell loss and degeneration is increased compared to controls
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• develop Rosenthal fibers in areas of the brain where GFAP aggregates are detected, such as the hippocampus
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• GFAP aggregates are present in the cochlear nerve
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• following noise exposure, cochlear hair cell loss and degeneration is increased compared to controls
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• 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
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| N |
• unlike patients with Alexander disease, spontaneous convulsions are not observed
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• 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
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Alexander disease | DOID:4252 |
OMIM:203450 |
J:138318 , J:139349 | |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 11/12/2024 MGI 6.24 |
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