|
Symbol Name ID |
Acta1
actin alpha 1, skeletal muscle MGI:87902 |
| Darker colors indicate more annotations |
| Human Phenotypes | Weakness of facial musculature |
Facial palsy |
Limb muscle weakness |
Joint contracture of the hand |
Joint contracture |
Arthrogryposis multiplex congenita |
Hypertonia |
Rigidity |
Hypotonia |
Generalized hypotonia |
Neonatal hypotonia |
EMG: myopathic abnormalities |
EMG: neuropathic changes |
Frequent falls |
Bulbar palsy |
Late-onset distal muscle weakness |
Generalized muscle weakness |
Neck flexor weakness |
Poor head control |
Proximal muscle weakness |
Respiratory insufficiency due to muscle weakness |
Type 1 muscle fiber predominance |
Abnormality of skeletal muscle fiber size |
Increased variability in muscle fiber diameter |
Increased endomysial connective tissue |
Nemaline bodies |
Skeletal muscle atrophy |
| Disease(s) Associated with ACTA1 | |||||||||||||||||||||||||||
| congenital myopathy 2B | |||||||||||||||||||||||||||
| congenital myopathy 2C | |||||||||||||||||||||||||||
| nemaline myopathy 3 |
| Mouse Phenotypes | facial muscle atrophy |
decreased skeletal muscle glycogen level |
abnormal muscle development |
abnormal muscle fiber morphology |
abnormal sarcomere morphology |
abnormal skeletal muscle fiber morphology |
decreased skeletal muscle fiber diameter |
decreased muscle weight |
abnormal muscle physiology |
muscle weakness |
|
| Availability | Mouse Genotype | ||||||||||
| Acta1tm1Jll/Acta1tm1Jll | |||||||||||
| Acta1tm1Hrd/Acta1+ | |||||||||||
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 04/16/2024 MGI 6.23 |
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