B6.BFa-Vps54wr/Cnrm

Status

Available to order

EMMA IDEM:01831
International strain nameB6.BFa-Vps54wr/Cnrm
Alternative nameC57BL/6-wr
Strain typeSpontaneous
Allele/Transgene symbolVps54wr,
Gene/Transgene symbolVps54

Information from provider

ProviderJOCKUSCH, Dr. Harald
Provider affiliationBielefeld University
Genetic informationSingle base exchange: transversion A to T in triplet 967 (exon 23), leading to amino acid replacement of leucine to glutamine. Related strains: L967Q transgene-expressing and knock-out of Vps54.
Phenotypic informationDegeneration 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). So far, no human disease has been identified in which the homologous gene, VPS54, is affected.
References
  • Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse.;Schmitt-John Thomas, Drepper Carsten, Mussmann Anke, Hahn Phillip, Kuhlmann Melanie, Thiel Cora, Hafner Martin, Lengeling Andreas, Heimann Peter, Jones Julie M, Meisler Miriam H, Jockusch Harald, ;2005;Nature genetics;37;1213-5; 16244655
  • Wobbler (wr);Falconer DS;1956;Mouse News Lett.;15;23;

Information from EMMA

Archiving centreCNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

MGI allele-associated human disease models

MGI phenotypes (allele matching)
  • decreased body weight / MGI
  • decreased grip strength / MGI
  • abnormal cell morphology / MGI
  • abnormal hepatocyte morphology / MGI
  • tremors / MGI
  • muscle weakness / MGI
  • forelimb paralysis / MGI
  • abnormal myelination / MGI
  • demyelination / MGI
  • abnormal motor neuron morphology / MGI
  • motor neuron degeneration / MGI
  • abnormal spinal nerve morphology / MGI
  • abnormal gait / MGI
  • abnormal posture / MGI
  • limb grasping / MGI
  • abnormal grip strength / MGI
  • infertility / MGI
  • abnormal gametogenesis / MGI
  • premature death / MGI
  • abnormal muscle physiology / MGI
  • abnormal astrocyte morphology / MGI
  • gliosis / MGI
  • abnormal CNS synaptic transmission / MGI
  • muscular atrophy / MGI
  • abnormal sciatic nerve morphology / MGI
  • asthenozoospermia / MGI
  • globozoospermia / MGI
  • oligozoospermia / MGI
  • abnormal skeletal muscle fiber morphology / MGI
  • decreased circulating estrogen level / MGI
  • abnormal nervous system morphology / MGI
  • abnormal nervous system physiology / MGI
  • abnormal nucleotide metabolism / MGI
  • abnormal axonal transport / MGI
  • decreased testis weight / MGI
  • abnormal lysosome morphology / MGI
  • upturned snout / MGI
  • facial muscle atrophy / MGI
  • progressive muscle weakness / MGI
  • abnormal inhibitory postsynaptic currents / MGI
  • abnormal GABAergic neuron morphology / MGI
  • abnormal GABA-mediated receptor currents / MGI
  • abnormal synaptic bouton morphology / MGI
  • abnormal miniature inhibitory postsynaptic currents / MGI
  • abnormal GABAergic neuron physiology / MGI
  • increased microglial cell activation / MGI

Literature references

  • Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse.;Schmitt-John Thomas, Drepper Carsten, Mussmann Anke, Hahn Phillip, Kuhlmann Melanie, Thiel Cora, Hafner Martin, Lengeling Andreas, Heimann Peter, Jones Julie M, Meisler Miriam H, Jockusch Harald, ;2005;Nature genetics;37;1213-5; 16244655
  • Wobbler (wr);Falconer DS;1956;Mouse News Lett.;15;23;

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.


Search
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).