|
Symbol Name ID |
Selenon
selenoprotein N MGI:2151208 |
| Darker colors indicate more annotations |
| Human Phenotypes | Weakness of facial musculature |
Facial palsy |
Hip contracture |
Elbow flexion contracture |
Increased muscle lipid content |
Flexion contracture |
Hamstring contractures |
Multiple joint contractures |
Hypotonia |
Generalized hypotonia |
Axial muscle weakness |
Generalized muscle weakness |
Neck muscle weakness |
Neck flexor weakness |
Poor head control |
Gowers sign |
Intermittent episodes of respiratory insufficiency due to muscle weakness |
Absent muscle fiber merosin |
Type 1 muscle fiber predominance |
Increased variability in muscle fiber diameter |
Centrally nucleated skeletal muscle fibers |
Increased endomysial connective tissue |
Muscle fiber atrophy |
Skeletal muscle atrophy |
Generalized amyotrophy |
Muscular dystrophy |
Myopathy |
Minicore myopathy |
Type 1 and type 2 muscle fiber minicore regions |
| Disease(s) Associated with SELENON | |||||||||||||||||||||||||||||
| rigid spine muscular dystrophy 1 |
| Mouse Phenotypes | decreased extensor digitorum longus weight |
decreased quadriceps weight |
decreased gastrocnemius weight |
decreased soleus weight |
decreased tibialis anterior weight |
decreased skeletal muscle fiber size |
decreased skeletal muscle fiber diameter |
centrally nucleated skeletal muscle fibers |
abnormal skeletal muscle morphology |
abnormal skeletal muscle fiber type ratio |
skeletal muscle atrophy |
skeletal muscle hypertrophy |
decreased skeletal muscle mass |
decreased satellite cell number |
abnormal muscle physiology |
abnormal muscle regeneration |
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| Availability | Mouse Genotype | ||||||||||||||||
| Selenontm1.2Mred/Selenontm1.2Mred | |||||||||||||||||
| Selenontm1Begg/Selenontm1Begg | |||||||||||||||||
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 04/23/2024 MGI 6.23 |
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