IMPC phenotypes (gene matching)
B6.BFa-Vps54wr/Cnrm
| Status | Available to order |
| EMMA ID | EM:01831 |
| Citation information | RRID:IMSR_EM:01831 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | B6.BFa-Vps54wr/Cnrm |
| Alternative name | C57BL/6-wr |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Vps54wr |
| Gene/Transgene symbol | Vps54 |
Information from provider
| Provider | JOCKUSCH, Dr. Harald |
| Provider affiliation | Bielefeld University |
| Genetic information | Single 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 information | 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). So far, no human disease has been identified in which the homologous gene, VPS54, is affected. |
| References |
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Information from EMMA
| Archiving centre | CNR, 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
MGI phenotypes (gene matching)
- abnormal myocardial fiber morphology / MGI
- abnormal cell morphology / MGI
- abnormal hepatocyte morphology / MGI
- tremors / MGI
- muscle weakness / MGI
- progressive muscle weakness / MGI
- forelimb paralysis / MGI
- abnormal myelination / MGI
- demyelination / MGI
- abnormal motor neuron morphology / MGI
- motor neuron degeneration / MGI
- decreased spinal cord size / MGI
- abnormal spinal nerve morphology / MGI
- decreased body weight / 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 inhibitory postsynaptic currents / MGI
- abnormal skeletal muscle fiber morphology / MGI
- abnormal GABAergic neuron morphology / MGI
- decreased circulating estrogen level / MGI
- abnormal nervous system morphology / MGI
- abnormal nervous system physiology / MGI
- abnormal nucleotide metabolism / MGI
- embryonic growth retardation / MGI
- abnormal GABA-mediated receptor currents / MGI
- abnormal axonal transport / MGI
- decreased testis weight / MGI
- abnormal lysosome morphology / MGI
- upturned snout / MGI
- absent dorsal root ganglion / MGI
- abnormal synaptic bouton morphology / MGI
- abnormal miniature inhibitory postsynaptic currents / MGI
- decreased grip strength / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- abnormal GABAergic neuron physiology / MGI
- increased microglial cell activation / MGI
- facial muscle atrophy / 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;