Symbol Name ID |
Des
desmin MGI:94885 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Weakness of facial musculature |
Facial palsy |
Peroneal muscle atrophy |
Foot dorsiflexor weakness |
Shoulder girdle muscle atrophy |
EMG: myopathic abnormalities |
Bulbar palsy |
Distal muscle weakness |
Neck muscle weakness |
Late-onset proximal muscle weakness |
Scapuloperoneal weakness |
Respiratory insufficiency due to muscle weakness |
Z-band streaming |
Rimmed vacuoles |
Disease(s) Associated with DES | ||||||||||||||
myofibrillar myopathy 1 | ||||||||||||||
neurogenic scapuloperoneal syndrome Kaeser type |
Mouse Phenotypes | muscle phenotype |
abnormal vascular smooth muscle morphology |
abnormal myocardium layer morphology |
abnormal myocardial fiber morphology |
abnormal intercalated disk morphology |
decreased myocardial fiber number |
increased myocardial fiber size |
myocardial fiber degeneration |
abnormal ventricle papillary muscle morphology |
disorganized myocardium |
myocardium necrosis |
thin myocardium |
dilated cardiomyopathy |
decreased cardiac muscle contractility |
decreased ventricle muscle contractility |
abnormal cardiac muscle relaxation |
cardiomyopathy |
abnormal skeletal muscle fiber mitochondrial morphology |
skeletal muscle fiber necrosis |
abnormal soleus morphology |
abnormal Z line morphology |
abnormal skeletal muscle fiber morphology |
skeletal muscle fiber atrophy |
increased skeletal muscle fiber size |
increased variability of skeletal muscle fiber size |
centrally nucleated skeletal muscle fibers |
decreased skeletal muscle fiber number |
skeletal muscle fiber degeneration |
abnormal skeletal muscle morphology |
abnormal diaphragm morphology |
thin diaphragm muscle |
skeletal muscle degeneration |
skeletal muscle endomysial fibrosis |
abnormal smooth muscle morphology |
dystrophic muscle |
muscle degeneration |
impaired skeletal muscle contractility |
progressive muscle weakness |
myopathy |
|
Availability | Mouse Genotype | |||||||||||||||||||||||||||||||||||||||
Destm1.1Ccrs/Destm1.1Ccrs | ||||||||||||||||||||||||||||||||||||||||
Destm1Cap/Destm1Cap | ||||||||||||||||||||||||||||||||||||||||
Destm1Cba/Destm1Cba | ||||||||||||||||||||||||||||||||||||||||
Destm1Ltho/Destm1Ltho | ||||||||||||||||||||||||||||||||||||||||
Destm1.1Ccrs/Des+ | * | |||||||||||||||||||||||||||||||||||||||
Tg(Myh6-Des*)641Rbns/0 |
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 04/30/2024 MGI 6.23 |
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