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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
Peripheral neuropathy
Vocal cord paralysis
Vocal cord paresis
Cognitive impairment
Dysphonia
Hyporeflexia
Tremor
Delayed ability to walk
Disease(s) Associated with SLC5A7
congenital myasthenic syndrome 20
distal hereditary motor neuronopathy type 7A

Mouse Phenotypes
increased acetylcholine level
abnormal motor neuron innervation pattern
abnormal neuromuscular synapse morphology
abnormal synaptic acetylcholine release
Availability Mouse Genotype
Slc5a7tm1Rbl/Slc5a7tm1Rbl
Tg(Slc5a7)1Rbl/?

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
08/13/2019
MGI 6.14
The Jackson Laboratory