Strain Name:
FVB.129S7(Cg)-Gfaptm2Mes/Mmnc
Stock Number:
037369-UNC
Citation ID:
RRID:MMRRC_037369-UNC
Other Names:
R236H

Strain Information

Gfaptm2Mes
Name: glial fibrillary acidic protein; targeted mutation 2, Albee Messing
Synonyms: GFAP R236H, Gfaptm2Hgmn
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 11
Alteration at locus: Knock-In
Gfap
Name: glial fibrillary acidic protein
Type: Gene
Species: Mouse
Chromosome: 11
Alteration at locus: Knock-In
NCBI: 14580
HGNC: HGNC:4235
Homologene: 1554
Genetic Alterations
A targeting vector was designed to insert the R236H mutation in exon 4, that is found in Alexander Disease patients. Cre-mediated recombination with a nestin-cre removed the floxed neo cassette.
Genotype Determination
  • Genotyping Protocol(s)
  • Center protocol and contact for technical support will be shipped with mice.
  • ES Cell Line
    AB1 derived from 129S7/SvEvBrd-Hprt+
    Phenotype

    Homozygous: Somewhat more severe than heterozygotes, but not characterized.

    Heterozygous: There is an abnormal cellular phenotype relating to oxidative stress, an abnormal body size phenotype relating to slow postnatal weight gain, and an abnormal nervous system phenotype relating to astrocyte morphology.

    Mammalian Phenotype Terms
    Allelic Composition: Gfaptm2Mes/Gfaptm2Mes (Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * FVB/N )

    Allelic Composition: Gfaptm2Mes/Gfap+ (Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * FVB/N )

    MeSH Terms
    • Alexander Disease/genetics
    • Alexander Disease/metabolism
    • Alexander Disease/pathology
    • Animals
    • Female
    • Glial Fibrillary Acidic Protein/biosynthesis
    • Glial Fibrillary Acidic Protein/genetics
    • Humans
    • Male
    • Mice
    • Mice, Inbred C57BL
    • Mice, Knockout
    • Mice, Transgenic
    • Mutation, Missense
    • Nerve Fibers, Myelinated/pathology
    • Nerve Fibers, Myelinated/physiology
    • Stress, Physiological/genetics
    • Stress, Physiological/metabolism
    • Stress, Physiological/pathology
    • alpha-Crystallin B Chain/biosynthesis
    • alpha-Crystallin B Chain/genetics
    Strain Development

    Correctly targeted AB-1 ES cells derived from 129S7/SvEvBrd-Hprt+ were injected into C57BL/6J blastocysts. Chimeric founders were bred to Rosa26-cre mice in the FVB background to delete the floxed neo-cassette. Offspring were subsequently bred to FVB/NTac for over 26 generations and maintained as heterozygotes. This mutation is also available on a C57BL/6J background, MMRRC:037470, B6.129(FVB)-Gfaptm2Mes/Mmmh.

    A sample from this MMRRC strain was analyzed using the Mouse Universal Genotyping Array (MUGA) and MMRRC computational tools were used to assess the genetic background. A summary of the data can be found here.

    MMRRC Strain Reference Strains Genomic makeup (Mb)
    Strain Name MMRRC ID # Reference 1 Reference 2 Ref 1 Ref 2 Het Unknown
    FVB.129S7(Cg)-Gfaptm2Mes/Mmnc 37369 FVB/NJ 129S7/SvEvBrd(AB2.2) 2577 0 7 0
    Suggested Control Mice
    Wild-type littermates or FVB/NTac mice
    MMRRC Genetic QC Summary
    The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact mmrrc@med.unc.edu. Older strains may not have this information.
    • Cell Biology
    • Models for Human Disease
      • Alexander disease
    • Neurobiology
    Donor
    Albee Messing, D.V.M., University of Wisconsin-Madison School of Veterinary Medicine.
    Primary Reference

    Hagemann TL, Connor JX, & Messing A. Alexander disease-associated GFAP mutations in mice induce Rosenthal fiber formation and a white matter stress response. J Neurosci. 2006 Oct 25;26(43):11162-73. (Medline PMID: 17065456)

    Colony and Husbandry Information

    Colony Surveillance Program and Current Health Reports

    Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc_health@med.unc.edu.
    Coat Color
    Albino
    Other
    ~15-20% smaller than wild-type littermates
    MMRRC Breeding System
    Backcross
    Breeding Scheme(s)

    Wild-type (FVB/NTac) female x Heterozygous male or reciprocal mating

    Generation
    N26
    Overall Breeding Performance
    Poor
    Viability and Fertility: Female Male Comments
    Homozygotes are viable: Yes Yes
    Homozygotes are fertile: Yes Yes
    Heterozygotes are fertile: Yes Yes
    Age Reproductive Decline: Undetermined Undetermined
    Average litter size
    Undetermined
    Recommended wean age
    3-4 weeks

    Order Request Information

    Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

    Cryopreserved material may be available upon request, please inquire to mmrrc@med.unc.edu for more information.

    Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

    The donor or their institution limits the distribution to non-profit institutions only.

    Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.

    Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
    MMRRC Item # Description Distribution Fee / Unit (US $)
    *Shipping & Handling not included*
    Units Notes
    037369-UNC-RESUS Litter recovered from cryo-archive $2,914.00 / Non-Profit Litter Recovered litter4; additional fees for any special requests.
    Cryopreserved material may be available upon request, please inquire to mmrrc@med.unc.edu for more information.

    1 The distribution fee covers the expense of rederiving mice from a live mouse; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

    2 An aliquot contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

    3 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

    4 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

    To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.