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Targeted Allele Detail
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
Germline Transmission:  Earliest citation of germline transmission: J:114689
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt+
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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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:  34 strains or lines available
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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory