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Symbol
Name
ID
Col13a1
collagen, type XIII, alpha 1
MGI:1277201
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Facial palsy
Bulbar palsy
Motor delay
Disease(s) Associated with COL13A1
congenital myasthenic syndrome 19

Mouse Phenotypes
abnormal synaptic vesicle exocytosis
abnormal motor neuron morphology
abnormal neuromuscular synapse morphology
abnormal synaptic vesicle morphology
abnormal endplate potential
abnormal miniature endplate potential
abnormal synaptic acetylcholine release
Availability Mouse Genotype
Col13a1tm1Pih/Col13a1tm1Pih
Col13a1tm2Pih/Col13a1tm2Pih
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
05/14/2024
MGI 6.23
The Jackson Laboratory