IMPC phenotypes (gene matching)
B6.BFa-Vps54wr/Cnrm
| Status | Available to order |
| EMMA ID | EM:01831 |
| 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;