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Symbol
Name
ID
Slc5a7
solute carrier family 5 (choline transporter), member 7
MGI:1927126
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Facial palsy
Dysphagia
Difficulty walking
Bulbar palsy
Fatigable weakness
Tremor
Vocal cord paralysis
Vocal cord paresis
Abnormal motor nerve conduction velocity
Intellectual disability
Hyporeflexia
Motor delay
Delayed ability to walk
Peripheral neuropathy
Disease(s) Associated with SLC5A7
autosomal dominant distal hereditary motor neuronopathy 7
congenital myasthenic syndrome 20

Mouse Phenotypes
abnormal motor neuron innervation pattern
abnormal neuromuscular synapse morphology
abnormal synaptic acetylcholine release
Availability Mouse Genotype
Slc5a7tm1Rbl/Slc5a7tm1Rbl

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
05/07/2024
MGI 6.23
The Jackson Laboratory