|
Symbol Name ID |
Slc1a4
solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 MGI:2135601 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Primary microcephaly |
Secondary microcephaly |
Progressive microcephaly |
Drooling |
Ankle clonus |
Dysphagia |
Spasticity |
Lower limb spasticity |
Spastic tetraplegia |
Cerebral hypomyelination |
Delayed CNS myelination |
Abnormal cerebral white matter morphology |
Thin corpus callosum |
Hypoplasia of the corpus callosum |
Cerebral atrophy |
Brain atrophy |
Clonus |
Myoclonic spasms |
Babinski sign |
Hypsarrhythmia |
Absent speech |
Delayed speech and language development |
Irritability |
Hyperactivity |
Motor stereotypy |
Hair-pulling |
Intellectual disability |
Hyperreflexia |
Brisk reflexes |
Inability to walk |
Global developmental delay |
Motor delay |
Seizure |
Bilateral tonic-clonic seizure |
Generalized-onset seizure |
Infantile spasms |
| Disease(s) Associated with SLC1A4 | |||||||||||||||||||||||||||||||||||||
| spastic tetraplegia, thin corpus callosum, and progressive microcephaly |
| Mouse Phenotypes | decreased brain weight |
abnormal corpus callosum morphology |
abnormal cerebral cortex morphology |
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| Availability | Mouse Genotype | |||
| Slc1a4em2Tmg/Slc1a4em2Tmg | ||||
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 05/28/2024 MGI 6.13 |
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