IMPC phenotypes (gene matching)
B6;129P2-Vps54Gt(RRI497)Byg/Cnrm
| Status | Available to order |
| EMMA ID | EM:01825 |
| International strain name | B6;129P2-Vps54Gt(RRI497)Byg/Cnrm |
| Alternative name | Vps54-beta-Geo |
| Strain type | Gene-trap |
| Allele/Transgene symbol | Vps54Gt(RRI497)Byg |
| Gene/Transgene symbol | Vps54 |
Information from provider
| Provider | Thomas Schmitt-John ANDREAS LENGELING |
| Provider affiliation | Aarhus University, Aarhus, Denmark & GBF, Braunschweig, Germany |
| Genetic information | Beta-geo (pGT10lxf-Trap beta-geo cassette) insertion in intron 4 of Vps54 gene on mouse Chr 11. Gene trap ES cell line RRI497 was obtained from BayGenomics. |
| Phenotypic information | Embryonic lethal around day 11 of embryonic development: developmental retardation of heart and neural tube, nearly absent dorsal root ganglia. There are no human conditions associated to Vps54 but the wobbler mouse (see EMMA strain ID EM:01831), a ALS (amyotrophic lateral sclerosis) animal model, is caused by a point mutation in this gene (Schmitt-John et al., 2005; PubMed ID 16244655). |
| Breeding history | Male chimeras were mated with C57BL/6J. F1 offspring are intercrossed. |
| References |
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Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
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