Symbol Name ID |
Col13a1
collagen, type XIII, alpha 1 MGI:1277201 |
Darker colors indicate more annotations |
Human Phenotypes | Facial palsy |
Hypotonia |
Generalized hypotonia |
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
Increased jitter at single fiber EMG |
Axial muscle weakness |
Bulbar palsy |
Distal muscle weakness |
Poor head control |
Proximal muscle weakness |
Increased variability in muscle fiber diameter |
Disease(s) Associated with COL13A1 | |||||||||||
congenital myasthenic syndrome 19 |
Mouse Phenotypes | myositis |
abnormal soleus morphology |
decreased soleus weight |
abnormal sarcolemma morphology |
abnormal Z line morphology |
abnormal skeletal muscle fiber morphology |
decreased skeletal muscle fiber diameter |
skeletal muscle fiber atrophy |
centrally nucleated skeletal muscle fibers |
abnormal skeletal muscle morphology |
abnormal diaphragm morphology |
abnormal skeletal muscle fiber type ratio |
muscle degeneration |
muscle weakness |
myopathy |
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Availability | Mouse Genotype | |||||||||||||||
Col13a1tm1Pih/Col13a1tm1Pih | ||||||||||||||||
Col13a1tm3.1Pih/Col13a1tm3.1Pih | ||||||||||||||||
Col13a1tm4.1Pih/Col13a1tm4.1Pih |
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 04/30/2024 MGI 6.23 |
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