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Symbol
Name
ID
Slc19a3
solute carrier family 19, member 3
MGI:1931307
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Facial palsy
Dysphagia
Opisthotonus
Frequent falls
Abnormal basal ganglia morphology
Abnormal pyramidal tract morphology
Gait ataxia
Chorea
Action tremor
Truncal titubation
Abnormal pyramidal sign
Babinski sign
Paraparesis
Tetraparesis
Dysarthria
Loss of speech
Mutism
Irritability
Lethargy
Confusion
Coma
Dystonia
Craniofacial dystonia
Inability to walk
Encephalopathy
Developmental regression
Global developmental delay
Seizure
Disease(s) Associated with SLC19A3
biotin-responsive basal ganglia disease

Mouse Phenotypes
astrocytosis
decreased neuron number
neurodegeneration
Availability Mouse Genotype
Slc19a3tm1.1Nwak/Slc19a3tm1.1Nwak
Slc19a3tm1Said/Slc19a3tm1Said

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