Symbol
Name
ID

Emd
emerin
MGI:108117

Phenotype annotations related to muscle

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Achilles tendon contracture

Knee flexion contracture

Proximal lower limb amyotrophy

Proximal upper limb amyotrophy

Scapular winging

Proximal muscle weakness in upper limbs

Proximal muscle weakness in lower limbs

Limb-girdle muscular dystrophy

Elbow flexion contracture

Decreased cervical spine flexion due to contractures of posterior cervical muscles

Hypotonia

EMG: myopathic abnormalities

Respiratory insufficiency due to muscle weakness

Myotonia

Absent muscle fiber emerin

Type 1 muscle fiber atrophy

Rimmed vacuoles

Skeletal muscle atrophy

Myopathy

Disease(s) Associated with EMD

Emery-Dreifuss muscular dystrophy

X-linked Emery-Dreifuss muscular dystrophy 1

Mouse Phenotypes		muscle phenotype	abnormal myocardial fiber morphology	decreased myocardial fiber size	increased myocardial fiber number	decreased ventricle muscle contractility	abnormal gastrocnemius morphology	abnormal skeletal muscle fiber morphology
Availability	Mouse Genotype	muscle phenotype	abnormal myocardial fiber morphology	decreased myocardial fiber size	increased myocardial fiber number	decreased ventricle muscle contractility	abnormal gastrocnemius morphology	abnormal skeletal muscle fiber morphology
	Emd^tm1.1Stw/Emd^tm1.1Stw	*
	Emd^tm1Ykh/Emd^tm1Ykh
	Emd^tm1.1Stw/Y
	Emd^tm1Ykh/Y

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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