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| Nomenclature |
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Symbol:
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Gfaptm2Hgmn
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Name:
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glial fibrillary acidic protein;
targeted mutation 2, Tracy L Hagemann
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MGI ID: |
MGI:3692741 |
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Synonyms: |
GFAP R236H |
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Gene:
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Gfap
Location:
Chr11:102887336-102900912 bp, - strand
Genetic Position: Chr11,
66.48 cM, cytoband D
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:114689
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Parent Cell Line:
| AB1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprt+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Nucleotide substitutions |
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Mutation details: A targeting vector was designed to insert the R236H mutation in exon 4, that is found in Alexander Disease patients. Quantitative real-time PCR showed that Gfap expression is elevated. (J:114689)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Gfap Mutation:
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61 strains or lines available |
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| References |
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Original: |
J:114689
Hagemann TL et al.,
"Alexander disease-associated glial fibrillary acidic protein mutations in mice induce Rosenthal fiber formation and a white matter stress response."
J Neurosci 2006 Oct 25;26(43):11162-73
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All: |
6 reference(s)
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Analysis Tools
