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Symbol
Name
ID
Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
MGI:1194504
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Peripheral hypomyelination
Chronic axonal neuropathy
Ataxia
Dysdiadochokinesis
Cerebellar atrophy
Neurological speech impairment
Intention tremor
Polydipsia
Salt craving
Intellectual disability
Intellectual disability, moderate
Delayed speech and language development
Global developmental delay
Seizures
Disease(s) Associated with KCNJ10
EAST syndrome
Pendred 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 ventricles
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
Availability Mouse Genotype
Kcnj10tm1Lst/Kcnj10tm1Lst
Kcnj10tm1Kdmc/Kcnj10tm1Kdmc
Tg(GFAP-cre)1Kdmc/?  (conditional)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/14/2017
MGI 6.11
The Jackson Laboratory