Gfap^tm3Mes
Targeted Allele Detail

Summary

• Symbol: Gfap^tm3Mes
• Name: glial fibrillary acidic protein; targeted mutation 3, Albee Messing
• MGI ID: MGI:3690430
• Synonyms: GFAP R76H, Gfap^tm1Hgmn
• Gene: Gfap Location: Chr11:102778162-102791368 bp, - strand Genetic Position: Chr11, 66.48 cM, cytoband D
• Alliance: Gfap^tm3Mes 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 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)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 48 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: 3 reference(s)