IMPC phenotypes (gene matching)
C57BL/6N-Scn4atm2a(KOMP)Wtsi/H
| Status | Available to order |
| EMMA ID | EM:06051 |
| 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:
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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