|
Symbol Name ID |
Slc9a6
solute carrier family 9 (sodium/hydrogen exchanger), member 6 MGI:2443511 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Drooling |
Dysphagia |
Ventriculomegaly |
Cerebral cortical atrophy |
Aplasia/Hypoplasia of the corpus callosum |
Aplasia/Hypoplasia of the cerebellum |
Cerebellar atrophy |
Neuronal loss in central nervous system |
Ataxia |
Gait ataxia |
Truncal ataxia |
Interictal epileptiform activity |
Absent speech |
Mutism |
Happy demeanor |
Conspicuously happy disposition |
Inappropriate laughter |
Autism |
Motor stereotypy |
Intellectual disability, profound |
Intellectual disability, progressive |
Intellectual disability, severe |
Sleep abnormality |
Dystonia |
Loss of ability to walk in first decade |
Hyperkinetic movements |
Developmental regression |
Profound global developmental delay |
Severe global developmental delay |
Seizure |
Photosensitive tonic-clonic seizure |
Generalized-onset seizure |
| Disease(s) Associated with SLC9A6 | |||||||||||||||||||||||||||||||||
| Christianson syndrome |
| Mouse Phenotypes | increased susceptibility to pharmacologically induced seizures |
microgliosis |
abnormal brain cholesterol level |
abnormal brain morphology |
decreased brain size |
decreased striatum size |
abnormal amygdala morphology |
abnormal hippocampus morphology |
abnormal hippocampus CA3 region morphology |
abnormal hippocampus CA4 region morphology |
abnormal cerebral hemisphere morphology |
abnormal cerebral cortex morphology |
thin cerebral cortex |
abnormal cerebellum morphology |
Purkinje cell degeneration |
abnormal Purkinje cell axon morphology |
decreased Purkinje cell number |
abnormal cerebellar molecular layer |
small cerebellum |
astrocytosis |
gliosis |
abnormal neuron morphology |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||
| Slc9a6tm1Dgen/Slc9a6tm1Dgen | |||||||||||||||||||||||
| Slc9a6tm1Dgen/Slc9a6+ | |||||||||||||||||||||||
| Slc9a6tm1Dgen/Y | |||||||||||||||||||||||
| Slc9a6tm1Tigm/Y | |||||||||||||||||||||||
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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