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Gfaptm3Mes
Targeted Allele Detail
Nomenclature
Symbol: Gfaptm3Mes
Name: glial fibrillary acidic protein; targeted mutation 3, Albee Messing
MGI ID: MGI:3690430
Synonyms: GFAP R76H, Gfaptm1Hgmn
Gene: Gfap  Location: Chr11:102887336-102900912 bp, - strand  Genetic Position: Chr11, 66.48 cM, cytoband D
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:114689
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt+
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Nucleotide substitutions
 
Mutation detailsThe targeting vector was designed (by site-directed mutagenesis) to insert the arginine to histidine amino acid substitution at position 76 (R76H) (human 79) into exon 1 and place a loxP-flanked neomycin cassette into intron 3. R79H is associated with Alexander disease in humans. Cre-mediated recombination removed the floxed neo cassette. Quantitative real-time PCR showed that Gfap expression is elevated. (J:114689)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Gfap Mutation:  24 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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/07/2015
MGI 5.21
The Jackson Laboratory