K<sub>ir</sub>4.1 | Inwardly rectifying potassium channels | IUPHAR/BPS Guide to PHARMACOLOGY

Kir4.1

Target id: 438

Nomenclature: Kir4.1

Family: Inwardly rectifying potassium channels

Annotation status:  image of a green circle Annotated and expert reviewed. Please contact us if you can help with updates.  » Email us

   GtoImmuPdb view: OFF :     Currently no data for Kir4.1 in GtoImmuPdb

Gene and Protein Information
Species TM P Loops AA Chromosomal Location Gene Symbol Gene Name Reference
Human 2 1 379 1q22-q23 KCNJ10 potassium voltage-gated channel subfamily J member 10 30-31
Mouse 2 1 379 1 H3 Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 21
Rat 2 1 379 13q24 Kcnj10 potassium voltage-gated channel subfamily J member 10 3,34
Previous and Unofficial Names
BIR10 | Kir1.2 | ATP-sensitive inward rectifier potassium channel 10 | ATP-sensitive inward rectifier potassium channel KAB-2 | BIRK1 | brain-specific inwardly rectifying K(+) channel 1 | inward rectifier K(+) channel Kir4.1 | potassium channel, inwardly rectifying subfamily J, member 10 | potassium inwardly-rectifying channel
Database Links
CATH/Gene3D
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
Orphanet
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Associated Proteins
Heteromeric Pore-forming Subunits
Name References
Kir5.1 27,35,37
Auxiliary Subunits
Name References
Not determined
Other Associated Proteins
Name References
α-syntrophin 4
SAP97 11
PSD-95 11
CIPP 19
CaS receptor 12
Functional Characteristics
Inward-rectifier current
Ion Selectivity and Conductance
Species:  Rat
Rank order:  K+ [12.3 - 36.0 (median: 21.0) pS]
References:  27,34-35
Ion Selectivity and Conductance Comments
A functional channel is also formed by a Kir4.1/5.1 heteromer (K+, 42.7-49.6pS, [27]).

Download all structure-activity data for this target as a CSV file

Activator Comments
Kir4.1 channel activity is activated by intracellular alkalinization (pH≥8.0) with Kir4.1/5.1 heteromers being more sensitive to intracellular pH than Kir4.1 homomers (pH≥7.7) [26,35].
Gating inhibitors
Key to terms and symbols Click column headers to sort
Ligand Sp. Action Affinity Units Concentration range (M) Holding voltage (mV) Reference
Intracellular H+ Rn Antagonist 6.0 – 6.1 pEC50 - -100.0 26,37
pEC50 6.0 – 6.1 [26,37]
Holding voltage: -100.0 mV
Gating Inhibitor Comments
Kir4.1 channel activity is inhibited by intracellular acidification (pH ≤6.0) with Kir4.1/5.1 heteromers being more sensitive to intracellular pH than Kir4.1 homomers (pH ≤7.0; pEC50 =6.8-7.35) [26,35,37]. Endogenous inhibitors intracellular Mg2+ and polyamines (spermine4+, spermidine3+, putrescine2+), although voltage-dependence and sensitivity are not as strong as for Kir2 channels.
Channel Blockers
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Affinity Units Concentration range (M) Holding voltage (mV) Reference
Ba2+ Rn Antagonist - - 3x10-6 - 1x10-3 -160.0 – 60.0 18,34-35
Conc range: 3x10-6 - 1x10-3 M [18,34-35]
Holding voltage: -160.0 – 60.0 mV
Cs+ Rn Antagonist - - 3x10-5 - 3x10-4 -160.0 – 50.0 34
Conc range: 3x10-5 - 3x10-4 M [34]
Holding voltage: -160.0 – 50.0 mV
nortriptyline Hs Antagonist 4.4 – 4.8 pKd - -110.0 – 30.0 33
pKd 4.4 – 4.8 [33]
Holding voltage: -110.0 – 30.0 mV
View species-specific channel blocker tables
Channel Blocker Comments
100 micromolar fluoxetine also inhibits rat Kir4.1 >50% [7].
Tissue Distribution
Oligodendrocytes (spinal cord), cortical and cultured astrocytes.
Species:  Mouse
Technique:  Immunohistochemistry
References:  16,21,25
Forebrain and white matter tracts
Species:  Mouse
Technique:  In situ hybridisation
References:  21
Retina (Müller cells)
Species:  Rat
Technique:  Immunohistochemistry
References:  13-14,24
Forebrain, cerebellum, kidney.
Species:  Rat
Technique:  Northern Blot
References:  34
Cerebellum, forebrain, spinal cord (glia).
Species:  Rat
Technique:  In situ hybridisation
References:  28,34
Brain: Astrocytes and developing oligodendrocytes (white matter tracts and grey matter of the cerebellum (purkinje cells), hippocampus and spinal cord).
Retina
Species:  Rat
Technique:  Immunohistochemistry
References:  10,28
Kidney (distal convoluted tubule).
Species:  Rat
Technique:  Immunohistochemistry
References:  15,35
Brain and kidney
Species:  Rat
Technique: 
References:  37
Cochlea (stria vascularis).
Species:  Rat
Technique:  Immunohistochemistry
References:  1,9
Brain: cerebellum, hippocampus and striatum; spinal cord; cultured astrocytes and oligodendrocytes
Species:  Rat
Technique:  RT-PCR
References:  28
Gastric parietal cells.
Species:  Rat
Technique:  Immunohistochemistry
References:  6
Functional Assays
Electrophysiological characterisation of a K+ current.
Species:  Mouse
Tissue:  Renal epithelia
Response measured:  Current
References:  20,22
The response of gastric parietal cells to the administration of Ba2+.
Species:  Rat
Tissue:  Stomach
Response measured:  H+ secretion.
References:  6
Physiological Functions
Mediation of K+ recycling to maintain the activity of H+-K+-ATPases at the apical membrane of gastric parietal cells.
Species:  Rat
Tissue:  Stomach.
References:  6
Mediation of K+ buffering by retinal Müller cells.
Species:  Mouse
Tissue:  Retina.
References:  17
Formation of the K+ gradient that establishes the endocochlear potential.
Species:  Mouse
Tissue:  Ear.
References:  23
Establishment of resting membrane potential and myelination by developing oligodendrocytes.
Species:  Mouse
Tissue:  Spinal cord.
References:  25
Mediation of K+ recycling to maintain the activity of Na+-K+-ATPase at the basolateral membrane of renal epithelia (Kir4.1/5.1 heteromers).
Species:  Mouse
Tissue:  Kidney.
References:  15,22,35,37
Physiological Consequences of Altering Gene Expression
Absence of Kir4.1 expression leads to motor impairment as a consequence of hypomyelination in the spinal cord.
Species:  Mouse
Tissue:  Oligodendrocytes
Technique:  Knockout
References:  25
Absence of Kir4.1 expression causes loss of the endocochlear potential.
Species:  Mouse
Tissue:  Cochea (striatal intermediate cells)
Technique:  Knockout
References:  23
Absence of Kir4.1 expression causes the absence of the slow PIII response in the light-evoked electroretinogram, increased input resistance and depolarisation of retinal Müller cells.
Species:  Mouse
Tissue:  Retinal Müller cells
Technique:  Knockout
References:  17
Phenotypes, Alleles and Disease Models Mouse data from MGI

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Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0002182 abnormal astrocyte morphology PMID: 17942730 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0000952 abnormal CNS glial cell morphology PMID: 17942730 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0002206 abnormal CNS synaptic transmission PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0000031 abnormal cochlea morphology PMID: 12618319 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0006403 abnormal cochlear endolymph ionic homeostasis PMID: 11788352 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0004716 abnormal cochlear nerve morphology PMID: 12618319 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0004409 abnormal crista ampullaris neuroepithelium morphology PMID: 12618319 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0002910 abnormal excitatory postsynaptic currents PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0005551 abnormal eye electrophysiology PMID: 10908613 
Kcnj10+|Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10+
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0005253 abnormal eye physiology PMID: 10908613 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0005253 abnormal eye physiology PMID: 17942730 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0003690 abnormal glial cell physiology PMID: 17942730 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0002066 abnormal motor capabilities/coordination/movement PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0001516 abnormal motor coordination/ balance PMID: 10908613  11466414 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0000920 abnormal myelination PMID: 11466414 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0002272 abnormal nervous system electrophysiology PMID: 11466414 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0003632 abnormal nervous system morphology PMID: 17942730 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0003633 abnormal nervous system physiology PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0000953 abnormal oligodendrocyte morphology PMID: 11466414 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0000953 abnormal oligodendrocyte morphology PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0001504 abnormal posture PMID: 11466414 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0006021 abnormal Reissner membrane morphology PMID: 11788352  12618319 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0003169 abnormal scala media morphology PMID: 12618319 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0000955 abnormal spinal cord morphology PMID: 11466414 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0008027 abnormal spinal cord white matter morphology PMID: 11466414 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0008027 abnormal spinal cord white matter morphology PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0000048 abnormal stria vascularis PMID: 12618319 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0003149 abnormal tectorial membrane morphology PMID: 12618319 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0003491 abnormal voluntary movement PMID: 11466414 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0004410 absent endocochlear potential PMID: 11788352 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0006358 absent pinna reflex PMID: 11788352 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0006359 absent startle reflex PMID: 12618319 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0001393 ataxia PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0005405 axon degeneration PMID: 11466414 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0008025 brain vacuoles PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0002857 cochlear ganglion degeneration PMID: 12618319 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0004398 cochlear inner hair cell degeneration PMID: 12618319 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0004404 cochlear outer hair cell degeneration PMID: 12618319 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0006024 collapsed Reissner membrane PMID: 12618319 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0001265 decreased body size PMID: 10908613  11466414 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0001265 decreased body size PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0001262 decreased body weight PMID: 11466414 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0000774 decreased brain size PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0004765 decreased brainstem auditory evoked potential PMID: 11788352 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0001429 dehydration PMID: 11466414 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0001290 delayed eyelid opening PMID: 17942730 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0000825 dilated lateral ventricles PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0006025 distended Reissner membrane PMID: 12618319 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0003008 enhanced long term potentiation PMID: 17942730 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0005176 eyelids fail to open PMID: 17942730 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0002183 gliosis PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0000755 hindlimb paralysis PMID: 11466414 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0000755 hindlimb paralysis PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0001525 impaired balance PMID: 10908613 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0006325 impaired hearing PMID: 11788352 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0001523 impaired righting response PMID: 12618319 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0001523 impaired righting response PMID: 17942730 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0002923 increased post-tetanic potentiation PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0005424 jerky movement PMID: 10908613 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0005202 lethargy PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0000043 organ of Corti degeneration PMID: 12618319 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0001732 postnatal growth retardation PMID: 10908613  11466414  12618319 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0002082 postnatal lethality PMID: 10908613  11466414  12618319 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0008489 postnatal slow weight gain PMID: 17942730 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0002083 premature death PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0004331 saccular macula degeneration PMID: 12618319 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0006254 thin cerebral cortex PMID: 17942730 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0003997 tonic-clonic seizures PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0000745 tremors PMID: 11466414 
Kcnj10tm1Kdmc|Tg(GFAP-cre)1Kdmc Kcnj10tm1Kdmc/Kcnj10tm1Kdmc,Tg(GFAP-cre)1Kdmc/?
involves: C3H * C57BL/6 * C57BL/6J * SJL
MGI:1194504  MGI:3655845  MP:0000745 tremors PMID: 17942730 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0004334 utricular macular degeneration PMID: 12618319 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0004298 vestibular ganglion degeneration PMID: 12618319 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0004324 vestibular hair cell degeneration PMID: 12618319 
Kcnj10tm1Lst Kcnj10tm1Lst/Kcnj10tm1Lst
involves: 129S1/Sv * C57BL/6J
MGI:1194504  MP:0000746 weakness PMID: 11466414 
Clinically-Relevant Mutations and Pathophysiology
Disease:  Autism
Synonyms: Autism spectrum disorder [Disease Ontology: DOID:0060041]
Disease Ontology: DOID:0060041
OMIM: 209850
Orphanet: ORPHA106
Role: 
References:  32
Disease:  Huntington disease
Synonyms: Huntington's disease [Disease Ontology: DOID:12858]
Disease Ontology: DOID:12858
OMIM: 143100
References:  36
Disease:  Major depressive disorder; MDD
Disease Ontology: DOID:1470
OMIM: 608516
Role: 
Drugs: 
Side effects:  Seizure.
References:  33
Disease:  Neurosensory nonsyndromic recessive deafness 4; NSRD4
Synonyms: Autosomal recessive non-syndromic sensorineural deafness type DFNB [Orphanet: ORPHA90636]
Dilated vestibular aquaduct [OMIM: 600791]
Enlarged vestibular aqueduct [Disease Ontology: DOID:0050332]
Disease Ontology: DOID:0050332
OMIM: 600791
Orphanet: ORPHA90636
Disease:  Pendred syndrome
Orphanet: ORPHA705
References:  29,38
Disease:  Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance; SESAMES
Synonyms: EAST syndrome [Orphanet: ORPHA199343]
OMIM: 612780
Orphanet: ORPHA199343
Role: 
References:  2,29
Disease:  Seizure susceptibility
Role: 
References:  5
Clinically-Relevant Mutations and Pathophysiology Comments
A study in dogs demonstrated an association between a homozygous KCNJ10 mutation and spinocerebellar ataxia with myokymia and/or seizures [8].
Gene Expression and Pathophysiology
Decrease in expression of Kir4.1 lead to defects in neuronal K+ buffering and neuronal dysfunction in a model of Huntington disease.
Tissue or cell type: 
Pathophysiology:  Huntington disease
Species:  Mouse
Technique:  Transgenic mice
References:  36

References

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36. Tong X, Ao Y, Faas GC, Nwaobi SE, Xu J, Haustein MD, Anderson MA, Mody I, Olsen ML, Sofroniew MV et al.. (2014) Astrocyte Kir4.1 ion channel deficits contribute to neuronal dysfunction in Huntington's disease model mice. Nat. Neurosci., 17 (5): 694-703. [PMID:24686787]

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Contributors

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How to cite this page

Paul A. Slesinger, Colin G. Nichols, Lawrence G. Palmer, Henry Sackin, Stephen Tucker, John P. Adelman, David E. Clapham, Hiroshi Hibino, Atsushi Inanobe, Lily Y. Jan, Andreas Karschin, Yoshihiro Kubo, Yoshihisa Kurachi, Michel Lazdunski, Takashi Miki, Wade L. Pearson, Susumu Seino, Carol A. Vandenberg.
Inwardly rectifying potassium channels: Kir4.1. Last modified on 27/02/2018. Accessed on 15/11/2018. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=438.