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Symbol
Name
ID
Col13a1
collagen, type XIII, alpha 1
MGI:1277201
Phenotype annotations related to muscle
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
Availability Mouse Genotype
Col13a1tm1Pih/Col13a1tm1Pih
Col13a1tm3.1Pih/Col13a1tm3.1Pih
Col13a1tm4.1Pih/Col13a1tm4.1Pih

Contributing Projects:
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
The Jackson Laboratory