Symbol Name ID |
Emd
emerin MGI:108117 |
* | 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 | |||||||
Emdtm1.1Stw/Emdtm1.1Stw | * | |||||||
Emdtm1Ykh/Emdtm1Ykh | ||||||||
Emdtm1.1Stw/Y | ||||||||
Emdtm1Ykh/Y |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 05/14/2024 MGI 6.23 |
|
|