|
Symbol Name ID |
Scn4a
sodium channel, voltage-gated, type IV, alpha MGI:98250 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Facial muscle hypertrophy |
Weakness of facial musculature |
Congenital finger flexion contractures |
Achilles tendon contracture |
Hip contracture |
Scapular winging |
Limb muscle weakness |
Proximal muscle weakness in lower limbs |
Elbow flexion contracture |
Flexion contracture |
Limb joint contracture |
Shoulder flexion contracture |
Hypertonia |
Hypotonia |
Generalized hypotonia |
Neonatal hypotonia |
EMG abnormality |
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
EMG: myopathic abnormalities |
Easy fatigability |
Frequent falls |
Muscle stiffness |
Muscle weakness |
Axial muscle weakness |
Cold paresis |
Fatigable weakness |
Generalized muscle weakness |
Episodic flaccid weakness |
Gowers sign |
Myotonia |
Cold-sensitive myotonia |
Handgrip myotonia |
Myotonia of the face |
Myotonia of the jaw |
Myotonia of the upper limb |
Paradoxical myotonia |
Percussion myotonia |
Increased variability in muscle fiber diameter |
Centrally nucleated skeletal muscle fibers |
Ragged-red muscle fibers |
Hypoplasia of the musculature |
Skeletal muscle atrophy |
Generalized amyotrophy |
Skeletal muscle hypertrophy |
Myopathy |
| Disease(s) Associated with SCN4A | |||||||||||||||||||||||||||||||||||||||||||||
| congenital myasthenic syndrome 16 | |||||||||||||||||||||||||||||||||||||||||||||
| congenital myopathy 22A | |||||||||||||||||||||||||||||||||||||||||||||
| congenital myopathy 22B | |||||||||||||||||||||||||||||||||||||||||||||
| hyperkalemic periodic paralysis | |||||||||||||||||||||||||||||||||||||||||||||
| paramyotonia congenita of Von Eulenburg |
| Mouse Phenotypes | muscle phenotype |
abnormal muscle morphology |
abnormal muscle fiber morphology |
abnormal skeletal muscle fiber morphology |
increased skeletal muscle fiber size |
increased variability of skeletal muscle fiber size |
centrally nucleated skeletal muscle fibers |
skeletal muscle atrophy |
abnormal muscle physiology |
abnormal muscle contractility |
impaired skeletal muscle contractility |
abnormal muscle electrophysiology |
impaired muscle relaxation |
increased muscle relaxation |
increased muscle fatigability |
muscle twitch |
muscle weakness |
myopathy |
|
| Availability | Mouse Genotype | ||||||||||||||||||
| Scn4am1Aaa/Scn4am1Aaa | * | ||||||||||||||||||
| Scn4atm1.1Cann/Scn4atm1.1Cann | |||||||||||||||||||
| Scn4atm1.1Ljh/Scn4atm1.1Ljh | |||||||||||||||||||
| Scn4atm1Ljh/Scn4atm1Ljh | |||||||||||||||||||
| Scn4am1Aaa/Scn4a+ | |||||||||||||||||||
| Scn4am1Aaa/Scn4atm1.1Ljh | * | ||||||||||||||||||
| Scn4atm1.1Cann/Scn4a+ | |||||||||||||||||||
| Scn4atm1.1Ljh/Scn4a+ | |||||||||||||||||||
| Scn4atm1Ljh/Scn4a+ | |||||||||||||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 05/07/2024 MGI 6.23 |
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