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Strain Name:
B6.129S4-Gcdhtm1Dmk/Mmnc
Stock Number:
034368-UNC
Citation ID:
RRID:MMRRC_034368-UNC

Strain Information

Gcdhtm1Dmk
Name: glutaryl-Coenzyme A dehydrogenase; targeted mutation 1, David M Koeller
Synonyms: Gcdh-
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 8
Alteration at locus: Targeted Mutation
Gcdh
Name: glutaryl-Coenzyme A dehydrogenase
Synonyms: D17825
Type: Gene
Species: Mouse
Chromosome: 8
Alteration at locus: Targeted Mutation
NCBI: 270076
HGNC: HGNC:4189
Homologene: 130
Genetic Alterations
Exons 1-7 were replaced with nlacF and NEO genes. nlacF is lacZ with a nuclear localization signal, it is cloned in-frame with expression driven by the Gcdh promoter, allowing for expression mapping in-vivo.
Genotype Determination
  • Genotyping Protocol(s)
  • Center protocol and contact for technical support will be shipped with mice.
  • ES Cell Line
    J1 derived from 129S4/SvJae
    Phenotype
    Homozygous: Highly elevated blood, urine and CSF levels of glutaric and 3-OH glutaric acids. They develop a spongiform myelinopathy in the brain. Young mice suffer from a rapid and irreversible brain injury when fed either a high protein or high lysine diet.
    Heterozygous: No known phenotype.
    Mammalian Phenotype Terms
    Allelic Composition: Gcdhtm1Dmk/Gcdhtm1Dmk (Genetic Background: involves: 129S4/SvJae * C57BL/6J )

    MeSH Terms
    • Amino Acid Metabolism, Inborn Errors/blood
    • Amino Acid Metabolism, Inborn Errors/genetics
    • Animals
    • Behavior, Animal
    • Brain/metabolism
    • Corpus Striatum/metabolism
    • Corpus Striatum/ultrastructure
    • Disease Models, Animal
    • Gene Targeting
    • Glutarates/blood
    • Glutaryl-CoA Dehydrogenase
    • Humans
    • Mice
    • Oxidoreductases/deficiency
    • Oxidoreductases/genetics
    • Oxidoreductases/physiology
    • Oxidoreductases Acting on CH-CH Group Donors
    • Phenotype
    • Amino Acid Metabolism, Inborn Errors/pathology
    • Chiroptera
    • Glutarates/administration & dosage
    • Glutarates/toxicity
    • Injections
    • Mice, Knockout
    • Neostriatum
    • Oxidoreductases Acting on CH-CH Group Donors/deficiency
    • Oxidoreductases Acting on CH-CH Group Donors/genetics
    Strain Development
    Original ES cells from 129X1/SvJ were injected into C57BL/6J blastocysts and chimeric females were bred with C57BL/6J males for approximately 6 generations. Subsequent breedings have been between animals at backcross generation 6. The homozygous null animals are viable and fertile and currently only homozygous null animals are being maintained in the colony.
    Suggested Control Mice

    Wildtype littermates

    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.
    • Metabolism
    • Models for Human Disease
    Donor
    David M. Koeller, M.D., Oregon Health & Science University
    Primary Reference
    • Koeller DM; Woontner M; Crnic LS; Kleinschmidt-DeMasters B; Stephens J; Hunt EL; Goodman SI, Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I., Hum Mol Genet. 2002 Feb 15;11(4):347-57 (Medline PMID: 11854167)
    • Koeller DM, Sauer S, Wajner M, de Mello CF, Goodman SI, Woontner M, Muhlhausen C, Okun JG, Kolker S. Animal models for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004;27(6):813-8. (Medline PMID: 15505386)

    Colony and Husbandry Information

    Homozygous null mice (male and female) are fertile and used to maintain the colony.

    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.

    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
    034368-UNC-EMBRYO Cryo-preserved embryos $1,488.00 / Non-Profit Aliquot Approximate quantity2 : 20-40 embryos / aliquot
    034368-UNC-SPERM Cryo-preserved spermatozoa $520.00 / Non-Profit Aliquot Approximate quantity3
    034368-UNC-RESUS Litter recovered from cryo-archive $3,088.00 / Non-Profit Litter Recovered litter4; additional fees for any special requests.

    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.