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Symbol
Name
ID

Des
desmin
MGI:94885

Phenotype annotations related to muscle

*	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

Des^tm1.1Ccrs/Des^tm1.1Ccrs

Des^tm1Cap/Des^tm1Cap

Des^tm1Cba/Des^tm1Cba

Des^tm1Ltho/Des^tm1Ltho

Des^tm1.1Ccrs/Des⁺

*

Tg(Myh6-Des*)641Rbns/0

Contributing Projects: 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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