|
Symbol Name ID |
Slc39a8
solute carrier family 39 (metal ion transporter), member 8 MGI:1914797 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Increased CSF lactate |
Ventriculomegaly |
Cerebral cortical atrophy |
Cerebral atrophy |
Cerebellar vermis atrophy |
Cerebellar atrophy |
Hypsarrhythmia |
Poor speech |
Intellectual disability |
Intellectual disability, profound |
Hyperreflexia |
Dystonia |
Inability to walk |
Elevated brain lactate level by MRS |
Global developmental delay |
Profound global developmental delay |
Delayed ability to sit |
Seizure |
| Disease(s) Associated with SLC39A8 | ||||||||||||||||||
| congenital disorder of glycosylation type IIn |
| Mouse Phenotypes | nervous system phenotype |
decreased dendritic spine density |
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| Availability | Mouse Genotype | ||
| Slc39a8em1Xijl/Slc39a8em1Xijl | * | ||
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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