Symbol Name ID |
Musk
muscle, skeletal, receptor tyrosine kinase MGI:103581 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Weakness of facial musculature |
Camptodactyly of finger |
Hip contracture |
Shoulder girdle muscle weakness |
Proximal muscle weakness in upper limbs |
Wrist flexion contracture |
Flexion contracture |
Congenital contracture |
Arthrogryposis multiplex congenita |
Elbow contracture |
Hypotonia |
Neonatal hypotonia |
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
Easy fatigability |
Axial muscle weakness |
Fatigable weakness |
Generalized muscle weakness |
Neck muscle weakness |
Gowers sign |
Distal lower limb amyotrophy |
Generalized amyotrophy |
Decreased muscle mass |
Disease(s) Associated with MUSK | ||||||||||||||||||||||
congenital myasthenic syndrome 9 | ||||||||||||||||||||||
fetal akinesia deformation sequence syndrome 1 |
Mouse Phenotypes | muscle phenotype |
thin diaphragm muscle |
decreased skeletal muscle mass |
abnormal muscle electrophysiology |
increased muscle fatigability |
muscle weakness |
progressive muscle weakness |
|
Availability | Mouse Genotype | |||||||
Musktm1.2Ics/Musktm1.2Ics | ||||||||
Musktm2Vwi/Musktm2Vwi | * | |||||||
Musktm1.1Vwi/Musktm2Vwi | ||||||||
Musktm1Vwi/Musktm1Vwi Tg(Ckmm-cre)5Khn/0 (conditional) |
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Musktm1Vwi/Musktm1.1Vwi Tg(Ckmm-cre)5Khn/0 (conditional) |
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 08/02/2024 MGI 6.24 |
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