Symbol Name ID |
Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10 MGI:1194504 |
Darker colors indicate more annotations |
Human Phenotypes | Difficulty walking |
Peripheral hypomyelination |
Peripheral axonal neuropathy |
Chronic axonal neuropathy |
Cerebellar atrophy |
Ataxia |
Dysdiadochokinesis |
Action tremor |
Intention tremor |
Absent speech |
Delayed speech and language development |
Polydipsia |
Salt craving |
Intellectual disability |
Inability to walk |
Global developmental delay |
Seizure |
Generalized-onset seizure |
Disease(s) Associated with KCNJ10 | ||||||||||||||||||
EAST syndrome |
Mouse Phenotypes | tonic-clonic seizures |
cochlear inner hair cell degeneration |
cochlear outer hair cell degeneration |
vestibular hair cell degeneration |
abnormal nervous system morphology |
decreased brain size |
dilated lateral ventricle |
thin cerebral cortex |
brain vacuoles |
abnormal CNS glial cell morphology |
abnormal astrocyte morphology |
abnormal oligodendrocyte morphology |
gliosis |
cochlear ganglion degeneration |
vestibular ganglion degeneration |
abnormal cochlear nerve morphology |
abnormal spinal cord morphology |
abnormal spinal cord white matter morphology |
axon degeneration |
abnormal nervous system physiology |
abnormal astrocyte physiology |
abnormal myelination |
abnormal nervous system electrophysiology |
abnormal CNS synaptic transmission |
abnormal excitatory postsynaptic currents |
enhanced long-term potentiation |
increased post-tetanic potentiation |
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Availability | Mouse Genotype | |||||||||||||||||||||||||||
Kcnj10tm1Lst/Kcnj10tm1Lst | ||||||||||||||||||||||||||||
Kcnj10tm1Kdmc/Kcnj10tm1Kdmc Tg(GFAP-cre)1Kdmc/? (conditional) |
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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