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Gfaptm2Mes
Targeted Allele Detail
Summary
Symbol: Gfaptm2Mes
Name: glial fibrillary acidic protein; targeted mutation 2, Albee Messing
MGI ID: MGI:3692741
Synonyms: GFAP R236H, Gfaptm2Hgmn
Gene: Gfap  Location: Chr11:102778162-102791368 bp, - strand  Genetic Position: Chr11, 66.48 cM, cytoband D
Alliance: Gfaptm2Mes page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:114689
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1+
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Nucleotide substitutions
 
Mutation detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Gfap Mutation:  47 strains or lines available
References
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
All:  18 reference(s)

Contributing Projects:
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
03/19/2024
MGI 6.23
The Jackson Laboratory