Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Gfaptm3Mes
Name:	glial fibrillary acidic protein; targeted mutation 3, Albee Messing
MGI ID:	MGI:3690430
Synonyms:	GFAP R76H, Gfaptm1Hgmn
Gene:	Gfap  Location: Chr11:102778162-102791368 bp, - strand  Genetic Position: Chr11, 66.48 cM, cytoband D
Alliance:	Gfaptm3Mes page

Germline Transmission:	Earliest citation of germline transmission: J:114689
Parent Cell Line:	AB1 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1+

Allele Type:    Targeted (Humanized sequence) Mutation:    Nucleotide substitutions   Mutation details: The 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).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	47 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:	3 reference(s)