Strain Name:
NFR.B-Vps54wr/Mmmh
Stock Number:
030340-MU
Citation ID:
RRID:MMRRC_030340-MU

Strain Information

Vps54wr
Name: VPS54 GARP complex subunit; wobbler
Synonyms: wr
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 11
Alteration at locus: Spontaneous Mutation
Vps54
Name: VPS54 GARP complex subunit
Synonyms: 5330404P15Rik, mSLP8, Vps54l, wr
Type: Gene
Species: Mouse
Chromosome: 11
Alteration at locus: Spontaneous Mutation
NCBI: 245944
Homologene: 5605
Genetic Alterations
Mutation: Point mutation (transversion) An A to T transversion occurs in the second position of codon 967 in exon 23. This results in a leucine to glutamine amino acid substitution (L967Q). Gene splicing is not affected by this mutation. All three normal transcripts are detected.
Genotype Determination
Phenotype
Homozygous: Clinically normal for 3 weeks after birth, homozygous by the fourth week are smaller and remain smaller than littermates. A high-stepping, slightly unsteady gait with fine tremors of the head develops into a characteristic side-to-side wobbling gait with head and front part of trunk held lower than normal. Degeneration of motor neurons in brain stem and spinal cord; defective sperm assembly. The mutant has served as a phenotypic model for amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA).

Heterozygous:
Grossly normal
Mammalian Phenotype Terms
Allelic Composition: Vps54wr/Vps54wr (Genetic Background: involves: C57BL/6J * C57BL/Fa )

Allelic Composition: Vps54wr/Vps54wr (Genetic Background: multiple strains )

Allelic Composition: Vps54Gt(RRI497)Byg/Vps54wr (Genetic Background: involves: 129P2/OlaHsd * C57BL/6J )

MeSH Terms
  • Animals
  • Brain Stem/pathology
  • Central Nervous System Diseases/genetics
  • Central Nervous System Diseases/pathology
  • Female
  • Genes, Recessive
  • Male
  • Mice
  • Motor Neurons
  • Muscles/pathology
  • Muscular Atrophy/genetics
  • Muscular Atrophy/pathology
  • Mutation
  • Rodent Diseases/genetics
  • Rodent Diseases/pathology
  • Spinal Cord/pathology
  • Amino Acid Sequence
  • Amyotrophic Lateral Sclerosis/genetics
  • Chromosomes, Artificial, Bacterial
  • Cloning, Molecular
  • Mice, Inbred C57BL
  • Mice, Neurologic Mutants
  • Mice, Transgenic
  • Molecular Sequence Data
  • Motor Neuron Disease/genetics
  • Motor Neuron Disease/pathology
  • Mutation, Missense/genetics
  • Sequence Homology, Amino Acid
  • Spermatogenesis/genetics
  • Vesicular Transport Proteins/genetics
  • Cell Nucleus/metabolism
  • Cytoplasm/metabolism
  • DNA-Binding Proteins/genetics
  • DNA-Binding Proteins/metabolism
  • Disease Models, Animal
  • Gene Expression Regulation/genetics
  • Motor Neuron Disease/metabolism
  • RNA, Messenger/metabolism
  • Ubiquitin/metabolism
Strain Development
Backcrossed to NFR/N strain >10 generations then cryopreserved at NIAGR. Embryos transferred to the University of Missouri in 2006.
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@missouri.edu. Older strains may not have this information.
Donor
Beth A. Bauer, DVM, University of Missouri
Primary Reference
  • Duchen LW, Strich SJ. An hereditary motor neurone disease with progressive denervation of muscle in the mouse: the mutant 'wobbler'. J Neurol Neurosurg Psychiatry. 1968 Dec;31(6):535-42. No abstract available. (Medline PMID: 5709840)
  • Schmitt-John T, Drepper C, Mussmann A, Hahn P, Kuhlmann M, Thiel C, Hafner M, Lengeling A, Heimann P, Jones JM, Meisler MH, Jockusch H. Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nat Genet. 2005 Nov;37(11):1213-5. Epub 2005 Oct 23. (Medline PMID: 16244655)
  • Dennis JS, Citron BA. Wobbler mice modeling motor neuron disease display elevated transactive response DNA binding protein. Neuroscience. 2009 Jan 23;158(2):745-50. Epub 2008 Oct 30. (Medline PMID: 19013502)

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@missouri.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@missouri.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
030340-MU-RESUS Litter recovered from cryo-archive $2,028.00 / $4,127.00
Non-Profit / For-Profit
Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.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.