IMPC phenotypes (gene matching)
B6;129P2-Vps54Gt(RRI497)Byg/Cnrm
| Status | Available to order |
| EMMA ID | EM:01825 |
| Citation information | RRID:IMSR_EM:01825 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;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 |
|
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