|
Symbol Name ID |
Slc19a2
solute carrier family 19 (thiamine transporter), member 2 MGI:1928761 |
| Darker colors indicate more annotations |
| Human Phenotypes | Secondary microcephaly |
Decreased CSF 5-methyltetrahydrofolate concentration |
Stroke |
Delayed myelination |
Cerebral atrophy |
Cerebellar hypoplasia |
Ataxia |
Eyelid myoclonus |
Confusion |
Dementia |
Global developmental delay |
Seizure |
Generalized non-motor (absence) seizure |
Absence seizure with eyelid myoclonia |
Somatic sensory dysfunction |
Paresthesia |
| Disease(s) Associated with SLC19A2 | ||||||||||||||||
| megaloblastic anemia | ||||||||||||||||
| thiamine-responsive megaloblastic anemia syndrome |
| Mouse Phenotypes | cochlear inner hair cell degeneration |
cochlear outer hair cell degeneration |
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| Availability | Mouse Genotype | ||
| Slc19a2tm1Ejn/Slc19a2tm1Ejn | |||
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 04/23/2024 MGI 6.23 |
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