|
Symbol Name ID |
Slc12a6
solute carrier family 12, member 6 MGI:2135960 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Facial diplegia |
Increased CSF protein concentration |
Onion bulb formation |
Demyelinating peripheral neuropathy |
Axonal degeneration/regeneration |
Peripheral axonal neuropathy |
Aqueductal stenosis |
Ventriculomegaly |
Agenesis of corpus callosum |
Diffuse white matter abnormalities |
Tremor |
Limb tremor |
Hemiplegia/hemiparesis |
EEG abnormality |
Interictal epileptiform activity |
Decreased motor nerve conduction velocity |
Decreased sensory nerve conduction velocity |
Decreased nerve conduction velocity |
Absent speech |
Psychosis |
Intellectual disability |
Intellectual disability, mild |
Areflexia |
Inability to walk |
Global developmental delay |
Motor delay |
Peripheral neuropathy |
Motor polyneuropathy |
Polyneuropathy |
Sensory neuropathy |
Seizure |
| Disease(s) Associated with SLC12A6 | ||||||||||||||||||||||||||||||||
| agenesis of the corpus callosum with peripheral neuropathy |
| Mouse Phenotypes | nervous system phenotype |
increased susceptibility to pharmacologically induced seizures |
cochlear inner hair cell degeneration |
cochlear outer hair cell degeneration |
cochlear hair cell degeneration |
abnormal nervous system morphology |
abnormal brain morphology |
increased brain weight |
abnormal corpus callosum morphology |
decreased corpus callosum size |
hippocampal neuron degeneration |
abnormal cerebellum morphology |
abnormal axon morphology |
abnormal myelin sheath morphology |
cochlear ganglion degeneration |
abnormal dorsal root ganglion morphology |
abnormal sciatic nerve morphology |
spinal cord degeneration |
neurodegeneration |
axon degeneration |
axonal dystrophy |
peripheral nervous system degeneration |
abnormal myelination |
demyelination |
abnormal nerve conduction |
decreased prepulse inhibition |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||||||
| Slc12a6em1Dlp/Slc12a6em1Dlp | |||||||||||||||||||||||||||
| Slc12a6gaxp/Slc12a6gaxp | |||||||||||||||||||||||||||
| Slc12a6tm1.1Garo/Slc12a6tm1.1Garo | |||||||||||||||||||||||||||
| Slc12a6tm1Dlp/Slc12a6tm1Dlp | * | ||||||||||||||||||||||||||
| Slc12a6tm1Tjj/Slc12a6tm1Tjj | |||||||||||||||||||||||||||
| Slc12a6tm1Dlp/Slc12a6+ | * | ||||||||||||||||||||||||||
| Slc12a6tm1.1Tjj/Slc12a6tm1.1Tjj Tg(Pcp2-cre)2Mpin/0 (conditional) |
* | ||||||||||||||||||||||||||
| Slc12a6tm1Garo/Slc12a6tm1Garo Tg(Syn1-cre)671Jxm/0 (conditional) |
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| Pvalbtm1(cre)Arbr/Pvalb+ Slc12a6tm2.1Dlp/Slc12a6tm2.1Dlp (conditional) |
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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 05/21/2024 MGI 6.23 |
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