IMPC phenotypes (gene matching)
C57BL/6N-Scn4atm2a(KOMP)Wtsi/H
| Status | Available to order |
| EMMA ID | EM:06051 |
| Citation information | RRID:IMSR_EM:06051 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 | C57BL/6N-Scn4atm2a(KOMP)Wtsi/H |
| Alternative name | EPD0846_1_H11 |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Scn4atm2a(KOMP)Wtsi |
| Gene/Transgene symbol | Scn4a |
| Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
|
Information from provider
| Provider | MRC, Medical Research Council |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | This mouse line originates from KOMP ES clone EPD0846_1_H11. For further details on the construction of this clone see the page at the IMPC portal. |
| Phenotypic information | Potential phenotyping data in the IMPC portal |
| References | None available |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Hyperkalemic periodic paralysis / Orphanet_682
- Postsynaptic congenital myasthenic syndromes / Orphanet_98913
- Hypokalemic periodic paralysis / Orphanet_681
- Acetazolamide-responsive myotonia / Orphanet_99736
- Myotonia fluctuans / Orphanet_99734
- Paramyotonia congenita of Von Eulenburg / Orphanet_684
- Myotonia permanens / Orphanet_99735
MGI phenotypes (gene matching)
- muscle weakness / MGI
- myopathy / MGI
- decreased body weight / MGI
- impaired coordination / MGI
- limb grasping / MGI
- abnormal grip strength / MGI
- abnormal lung volume / MGI
- respiratory distress / MGI
- abnormal muscle physiology / MGI
- abnormal muscle morphology / MGI
- akinesia / MGI
- impaired skeletal muscle contractility / MGI
- abnormal skeletal muscle fiber morphology / MGI
- impaired muscle relaxation / MGI
- muscle fatigue / MGI
- increased muscle relaxation / MGI
- abnormal muscle fiber morphology / MGI
- abnormal muscle electrophysiology / MGI
- increased energy expenditure / MGI
- improved glucose tolerance / MGI
- muscle phenotype / MGI
- abnormal muscle contractility / MGI
- decreased circulating leptin level / MGI
- slow postnatal weight gain / MGI
- decreased survivor rate / MGI
- muscle twitch / MGI
- increased skeletal muscle fiber size / MGI
- increased variability of skeletal muscle fiber size / MGI
- centrally nucleated skeletal muscle fibers / MGI
- skeletal muscle atrophy / MGI
- mortality/aging / MGI
- perinatal lethality, complete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI