Symbol Name ID |
Slc5a7
solute carrier family 5 (choline transporter), member 7 MGI:1927126 |
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 |
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Availability | Mouse Genotype | |||
Slc5a7tm1Rbl/Slc5a7tm1Rbl |
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 |
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