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Symbol
Name
ID
Slc12a6
solute carrier family 12, member 6
MGI:2135960
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Facial diplegia
Onion bulb formation
Decreased motor nerve conduction velocity
Decreased sensory nerve conduction velocity
Axonal degeneration/regeneration
Peripheral axonal neuropathy
Motor polyneuropathy
Polyneuropathy
Sensory neuropathy
Agenesis of corpus callosum
Aqueductal stenosis
Ventriculomegaly
Increased CSF protein
EEG abnormality
Hemiplegia/hemiparesis
Areflexia
Tremor
Limb tremor
Psychosis
Intellectual disability
Global developmental delay
Motor delay
Seizures
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)
Pvalbtm1(cre)Arbr/Pvalb+
Slc12a6tm2.1Dlp/Slc12a6tm2.1Dlp  (conditional)

Contributing Projects:
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
07/09/2019
MGI 6.14
The Jackson Laboratory