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Symbol Name ID |
Mtmr14
myotubularin related protein 14 MGI:1916075 |
| Darker colors indicate more annotations |
| Human Phenotypes | Facial palsy |
Distal lower limb muscle weakness |
Proximal upper limb amyotrophy |
Proximal muscle weakness in upper limbs |
Flexion contracture |
Generalized hypotonia |
EMG: positive sharp waves |
EMG: myopathic abnormalities |
EMG: myotonic discharges |
Easy fatigability |
Proximal muscle weakness |
Type 1 muscle fiber predominance |
Centrally nucleated skeletal muscle fibers |
Proximal amyotrophy |
Skeletal muscle hypertrophy |
| Disease(s) Associated with MTMR14 | |||||||||||||||
| centronuclear myopathy 1 |
| Mouse Phenotypes | abnormal cardiac muscle contractility |
dilated sarcoplasmic reticulum |
muscular atrophy |
abnormal muscle physiology |
abnormal muscle contractility |
impaired skeletal muscle contractility |
impaired smooth muscle contractility |
abnormal muscle relaxation |
increased muscle fatigability |
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| Availability | Mouse Genotype | |||||||||
| Mtmr14tm1Ckq/Mtmr14tm1Ckq | ||||||||||
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 05/14/2024 MGI 6.23 |
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