Strain Name:
C3;B6-Tg(SOD1*)125Dbo/Mmnc
Stock Number:
000419-UNC
Citation ID:
RRID:MMRRC_000419-UNC

Strain Information

SOD1
Name: superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1
Type: Gene
Species: Homo sapiens (human)
Chromosome: 21
Tg(SOD1*)125Dbo
Name: transgene insertion 125, David Borschelt
Synonyms: H46R/H48Q/H63G/H120G, SOD1-Quad
Type: Transgene
Species: Mus musculus (mouse)
Chromosome: unknown
Alteration at locus: Transgenic
Genetic Alterations
The H46R/H48Q/H63G/H120G mutation was engineered into a 12 kb fragment of human genomic DNA, encompassing the entire SOD1 gene. In addition to line 125, line 71 was also generated.
Genotype Determination
  • Genotyping Protocol(s)
  • Center protocol and contact for technical support will be shipped with mice.
  • Phenotype
    Homozygotes: not viable

    Hemizygotes: These transgenic mice carry mutations in the four histidines that coordinately bind copper. Mice expressing mutations in residues 46 and 48 develop motor neuron disease, with the addition of mutations in residues 63 and 120 the Cu-binding site in SOD1 is completely abolished. Hemizygous mice exhibit typical symptoms of motor neuron disease including marked motor neuron loss, abnormal inclusions in spinal cord and brain stem tissues and at lower levels in cerebellum and cerebral cortex. Hindlimb paralysis occurs by 8-12 months of age. This mutant mouse strain may be useful in studies of amyotrophic lateral sclerosis.

    MeSH Terms
    • Amino Acid Substitution
    • Animals
    • Binding Sites
    • Copper/metabolism
    • Disease Models, Animal
    • Female
    • Histidine/chemistry
    • Humans
    • Male
    • Mice
    • Mice, Inbred C3H
    • Mice, Inbred C57BL
    • Mice, Transgenic
    • Motor Neuron Disease/enzymology
    • Motor Neuron Disease/genetics
    • Motor Neuron Disease/pathology
    • Motor Neurons/pathology
    • Mutation, Missense
    • Nerve Tissue Proteins/chemistry
    • Nerve Tissue Proteins/genetics
    • Neurofibrils/ultrastructure
    • Protein Folding
    • Spinal Cord/pathology
    • Structure-Activity Relationship
    • Superoxide Dismutase/chemistry
    • Superoxide Dismutase/genetics
    • Superoxides/metabolism
    • Thiazoles/analysis
    • Amyotrophic Lateral Sclerosis/genetics
    • Amyotrophic Lateral Sclerosis/metabolism
    • Axons/metabolism
    • Cells, Cultured
    • Histidine/genetics
    • Intermediate Filament Proteins/metabolism
    • Intracellular Signaling Peptides and Proteins
    • Motor Neurons/metabolism
    • Mutation
    • Nerve Tissue Proteins/metabolism
    • Protein Kinases/metabolism
    • Protein-Serine-Threonine Kinases/metabolism
    • Spinal Cord/metabolism
    • Superoxide Dismutase/metabolism
    • Superoxide Dismutase-1
    • alpha-Crystallin B Chain
    Suggested Control Mice

    Wild-type 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.
    • Amyotrophic Lateral Sclerosis
    • Motor Neuron Disease
    Donor
    David R. Borchelt, Ph.D., Johns Hopkins University School of Medicine
    Primary Reference
    • Wang J, Xu G, Gonzales V, Coonfield M, Fromholt D, Copeland NG, Jenkins NA, Borchelt DR. Fibrillar inclusions and motor neuron degeneration in transgenic mice expressing superoxide dismutase 1 with a disrupted copper-binding site. Neurobiol Dis. 2002 Jul;10(2):128-38. (Medline PMID: 12127151)
    • Wang J; Slunt H; Gonzales V; Fromholt D; Coonfield M; Copeland NG; Jenkins NA; Borchelt DR, Copper-binding-site-null SOD1 causes ALS in transgenic mice: aggregates of non-native SOD1 delineate a common feature., Hum Mol Genet 2003 Nov 1;12(21):2753-64 (Medline PMID: 12966034)

    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.

    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.

    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
    000419-UNC-SPERM Cryo-preserved spermatozoa $564.00 / $937.00
    Non-Profit / For-Profit
    Aliquot Approximate quantity3
    000419-UNC-RESUS Litter recovered from cryo-archive $2,914.00 / $4,837.00
    Non-Profit / For-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.