ENSMUSG00000009545


Mus musculus

Features
Gene ID: ENSMUSG00000009545
  
Biological name :Kcnq1
  
Synonyms : Kcnq1 / P97414 / Potassium voltage-gated channel subfamily KQT member 1
  
Possible biological names infered from orthology : P51787 / potassium voltage-gated channel subfamily Q member 1
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: F5
Gene start: 143106362
Gene end: 143427042
  
Corresponding Affymetrix probe sets: 10559276 (MoGene1.0st)   1449464_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000009689
Ensembl peptide - ENSMUSP00000140779
Ensembl peptide - ENSMUSP00000140673
Ensembl peptide - ENSMUSP00000140156
Ensembl peptide - ENSMUSP00000139798
Ensembl peptide - ENSMUSP00000139700
Ensembl peptide - ENSMUSP00000139548
NCBI entrez gene - 16535     See in Manteia.
MGI - MGI:108083
RefSeq - XM_017321998
RefSeq - XM_011241982
RefSeq - XM_006508492
RefSeq - XM_006508491
RefSeq - XM_006508490
RefSeq - NM_008434
RefSeq - XM_006508488
RefSeq - XM_006508489
RefSeq Peptide - NP_032460
swissprot - P97414
swissprot - A0A087WRU8
swissprot - A0A087WNY7
swissprot - A0A087WPA8
swissprot - A0A087WPJ2
swissprot - A0A087WQE3
swissprot - A0A087WRK7
Ensembl - ENSMUSG00000009545
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 kcnq1ENSDARG00000059798Danio rerio
 KCNQ1ENSGALG00000037138Gallus gallus
 KCNQ1ENSG00000053918Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Kcnq5 / Q9JK45 / Potassium voltage-gated channel subfamily KQT member 5 / Q9NR82* / potassium voltage-gated channel subfamily Q member 5*ENSMUSG0000002803338
Kcnq2 / potassium voltage-gated channel subfamily KQT member 2 isoform 13 / O43526* / potassium voltage-gated channel subfamily Q member 2*ENSMUSG0000001634637
Kcnq3 / Q8K3F6 / Potassium voltage-gated channel subfamily KQT member 3 / O43525* / potassium voltage-gated channel subfamily Q member 3*ENSMUSG0000005625835
Kcnq4 / Q9JK97 / Potassium voltage-gated channel subfamily KQT member 4 / P56696* / potassium voltage-gated channel subfamily Q member 4*ENSMUSG0000002863135


Protein motifs (from Interpro)
Interpro ID Name
 IPR003937  Potassium channel, voltage dependent, KCNQ
 IPR005821  Ion transport domain
 IPR005827  Potassium channel, voltage dependent, KCNQ1
 IPR013821  Potassium channel, voltage dependent, KCNQ, C-terminal
 IPR028325  Voltage-gated potassium channel


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006349 regulation of gene expression by genetic imprinting IMP
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006813 potassium ion transport IEA
 biological_processGO:0010460 positive regulation of heart rate IEA
 biological_processGO:0016458 gene silencing IMP
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0035690 cellular response to drug IEA
 biological_processGO:0048839 inner ear development IMP
 biological_processGO:0050892 intestinal absorption ISS
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0060048 cardiac muscle contraction IEA
 biological_processGO:0060306 regulation of membrane repolarization IEA
 biological_processGO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IEA
 biological_processGO:0060372 regulation of atrial cardiac muscle cell membrane repolarization IEA
 biological_processGO:0060452 positive regulation of cardiac muscle contraction IEA
 biological_processGO:0060453 regulation of gastric acid secretion IMP
 biological_processGO:0070293 renal absorption IMP
 biological_processGO:0071320 cellular response to cAMP IEA
 biological_processGO:0071435 potassium ion export IEA
 biological_processGO:0071805 potassium ion transmembrane transport IEA
 biological_processGO:0072358 cardiovascular system development IMP
 biological_processGO:0086005 ventricular cardiac muscle cell action potential IEA
 biological_processGO:0086009 membrane repolarization IMP
 biological_processGO:0086011 membrane repolarization during action potential IEA
 biological_processGO:0086013 membrane repolarization during cardiac muscle cell action potential IEA
 biological_processGO:0086014 atrial cardiac muscle cell action potential IEA
 biological_processGO:0086091 regulation of heart rate by cardiac conduction IEA
 biological_processGO:0097623 potassium ion export across plasma membrane IEA
 biological_processGO:0098914 membrane repolarization during atrial cardiac muscle cell action potential IEA
 biological_processGO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential IEA
 biological_processGO:1901381 positive regulation of potassium ion transmembrane transport IEA
 biological_processGO:1902260 negative regulation of delayed rectifier potassium channel activity ISO
 biological_processGO:1903817 negative regulation of voltage-gated potassium channel activity ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome ISO
 cellular_componentGO:0005770 late endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0008076 voltage-gated potassium channel complex IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane ISS
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0034702 ion channel complex IEA
 cellular_componentGO:0045121 membrane raft ISO
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005249 voltage-gated potassium channel activity IEA
 molecular_functionGO:0005251 delayed rectifier potassium channel activity IEA
 molecular_functionGO:0005267 potassium channel activity IEA
 molecular_functionGO:0005516 calmodulin binding ISO
 molecular_functionGO:0005546 phosphatidylinositol-4,5-bisphosphate binding IEA
 molecular_functionGO:0008157 protein phosphatase 1 binding IEA
 molecular_functionGO:0015271 outward rectifier potassium channel activity IEA
 molecular_functionGO:0034236 protein kinase A catalytic subunit binding IEA
 molecular_functionGO:0034237 protein kinase A regulatory subunit binding IEA
 molecular_functionGO:0044325 ion channel binding IEA
 molecular_functionGO:0086008 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization IEA
 molecular_functionGO:0086089 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization IEA
 molecular_functionGO:0097110 scaffold protein binding IEA
 molecular_functionGO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization IEA


Pathways (from Reactome)
Pathway description
Voltage gated Potassium channels
Phase 3 - rapid repolarisation
Phase 2 - plateau phase


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000026 abnormal inner ear morphology "malformation or malfunction of any components of the labyrinth, including the semicircular canals, vestibule and cochlea" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
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Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000031 abnormal cochlea morphology "any anomaly, deformity, malformation, impairment or dysfunction of the cochlea" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:21484]
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Allelic Composition: Kcnq1vtg-3J/Kcnq1vtg-3J
Genetic Background: C57BL/6J-Kcnq1vtg-3J/J

 MP:0000034 abnormal vestibule morphology "malformed cavity between the semicircular canals and the cochlea of the inner ear" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
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Allelic Composition: Kcnq1vtg-3J/Kcnq1vtg-3J
Genetic Background: C57BL/6J-Kcnq1vtg-3J/J

Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000035 abnormal membranous labyrinth "malformations in the complex arrangement of communicating canaliculi and sacs suspended within the cavity of the bony labyrinth of the inner ear" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23837]
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Allelic Composition: Igbp1tm1Cbt/Igbp1+,Tg(Lck-cre)1Cwi/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

 MP:0000043 organ of Corti degeneration "a retrogressive impairment of function or destruction of the highly specialized epithelium in the floor of the ductus cochlearis" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000048 abnormal stria vascularis "anomalous structure of the layer of highly vascularized pigmented granular cells on the outer wall of the cochlear duct" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Efstm1Kale/Efs+
Genetic Background: either: (involves: 129X1/SvJ) or (involves: 129X1/SvJ * C57BL/6J)

Allelic Composition: Kcnq1m1Anu/?
Genetic Background: involves: BALB/c * C57BL/6 * DBA/2

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Igbp1tm1Cbt/Igbp1+,Tg(Lck-cre)1Cwi/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

 MP:0001394 circling "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]
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Allelic Composition: Il7tm1Hms/Il7tm1Hms
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Kcnq1vtg-3J/Kcnq1vtg-3J
Genetic Background: C57BL/6J-Kcnq1vtg-3J/J

Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Kcnq1m1Anu/?
Genetic Background: involves: BALB/c * C57BL/6 * DBA/2

 MP:0001395 bi-directional circling "circling behavior exhibited in both clockwise and counterclockwise directions" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Igbp1tm1Cbt/Igbp1+,Tg(Lck-cre)1Cwi/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Kcnq1vtg-4J/Kcnq1vtg-4J
Genetic Background: B6.NOD-Kcnq1vtg-4J/J

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
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Allelic Composition: Igbp1tm1Cbt/Igbp1+,Tg(Lck-cre)1Cwi/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Igbp1tm1Cbt/Igbp1+,Tg(Lck-cre)1Cwi/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Efstm1Kale/Efs+
Genetic Background: either: (involves: 129X1/SvJ) or (involves: 129X1/SvJ * C57BL/6J)

 MP:0001408 stereotypic behavior "repetitive, invariant, perseverative motor patterns that do not appear to be purposeful" [What s wrong with my mouse?:ISBN 0-471-31639-3]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001410 head bobbing "compulsive up and down movement of the head" [J:17123]
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Allelic Composition: Igbp1tm1Cbt/Igbp1+,Tg(Lck-cre)1Cwi/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001411 spinning "compulsive rolling of the body" [J:17123]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001522 impaired swimming "reduced ability or inability to swim" [J:45446, J:39081]
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Allelic Composition: Igbp1tm1Cbt/Igbp1+,Tg(Lck-cre)1Cwi/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

 MP:0001523 impaired righting response "reduced ability or greater amount of time needed to recover from supine position" [J:25565]
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Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
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Allelic Composition: Efstm1Kale/Efs+
Genetic Background: either: (involves: 129X1/SvJ) or (involves: 129X1/SvJ * C57BL/6J)

 MP:0001625 cardiac hypertrophy "an increase in size of the cardiac tissue, not due to increased cell number " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001967 deafness "inability to hear" [J:57651]
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Allelic Composition: Il7tm1Hms/Il7tm1Hms
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Kcnq1tm2Kpfe/Kcnq1tm2Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Kcnq1vtg-4J/Kcnq1vtg-4J
Genetic Background: B6.NOD-Kcnq1vtg-4J/J

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fkbp1atm1.1Shou/Fkbp1atm1Zuk,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kcnq1tm3Kpfe/Kcnq1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0002428 abnormal semicircular canal "anomaly of the organ of balance composed of three long bony tubes of the labyrinth" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002729 abnormal canal morphology "any anomaly or malformation of the tubular ducts of the inner ear" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002833 increased heart weight "greater than average weight of the heart compared to the average for a particular strain" [RGD:Rat Genome Database submission]
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Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002857 cochlear ganglion degeneration "loss of neural cell bodies in the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002880 opisthotonus "a form of tetanic spasm in which the head, neck and spine are bent backward and the body is bowed forward" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Kcnq1m1Anu/?
Genetic Background: involves: BALB/c * C57BL/6 * DBA/2

 MP:0002894 abnormal otoliths "malformed crystalline calciferous particles adhering to the otolithic membrane" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Kcnq1vtg-3J/Kcnq1vtg-3J
Genetic Background: C57BL/6J-Kcnq1vtg-3J/J

Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003145 detached otolithic membrane "the otolithic (otoconial) membrane is abnormally detached from the underlying neuroepithelium" [J:60193, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003149 abnormal tectorial membrane morphology "malformation, malfunction or absence of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells; sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair cell membrane potential, transducing sound into electrical signals" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:77634]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003233 prolonged QT interval "increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time" [J:93197, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Kcnq1tm2Kpfe/Kcnq1tm2Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Kcnq1tm3Kpfe/Kcnq1tm3Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Kcnq1tm3Kpfe/Kcnq1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003308 abnormal cochlear sensory epithelium 
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Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003883 enlarged stomach "increased size of the stomach" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003896 prolonged PQ interval "increase in the length of time between the beginning of atrial depolarisation and the beginning of ventricular depolarisation" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004070 abnormal P wave "any anomaly in the P wave which is normally caused by atrial depolarization and corresponds to electrical impulses rather than mechanical atria contractions; irregular or absent P waves may indicate arrhythmia and the shape of the P waves may indicate atrial problems" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004138 abnormal mucous neck cell morphology "malformation of the mucin-producing epithelial cells present in the the neck of the gastric glands " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004139 abnormal parietal cell morphology "malformation of the gastric acid producing epithelial cells that are distributed throughout the length of the gastric gland " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004140 abnormal chief cell morphology "malformation of the pepsinogen producing epithelial cells that are clustered at the base of the gastric gland " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004249 abnormal crista ampullaris morphology "anomaly in the elevation found on the inner surface of the ampullae of each semicircular duct; filaments of the vestibular nerve pass through the crista to reach hair cells on its surface; the hair cells are capped by the cupula, a gelatinous protein-polysaccharide mass" [J:60193, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004301 absent supporting cells "absence of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004308 abnormal basilar membrane "any structural abnormality in the membrane extending from the bony spiral membrane to the basilar crest of the cochlea; it forms the greater part of the floor of the cochlear duct separating the latter from the scala tympani, and it supports the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004325 absent vestibular hair cells "absence of the sensory epithelial cells of the maculae and cristae of the membranous labyrinth of the inner ear which are normally in synaptic contact with the vestibular nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004334 utricular macular degeneration "degeneration or loss of the neuroepithelial sensory receptor in the inferolateral wall of the utricle" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004364 thin stria vascularis "reduced thickness of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004398 cochlear inner hair cell degeneration "degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm2Kpfe/Kcnq1tm2Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004404 cochlear outer hair cell degeneration "degeneration or loss of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm2Kpfe/Kcnq1tm2Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004405 absent cochlear hair cells "absence of the sensory epithelial cells of the cochlea; these cells are normally in synaptic contact with the auditory nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004409 abnormal neuroepithelium of ampullary crest "any structural abnormality in the specialized sensory hair cells of the ampullary crest of the ampulla of each semicircular duct" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004427 abnormal vestibular labyrinth "any structural abnormality in the portion of the membranous labyrinth concerned with the sense of equilibration (vs. the cochlear labyrinth, which is concerned with the sense of hearing) and innervated by the vestibular nerve; it is located within the semicircular canals and vestibule of the bony labyrinth, and consists of the utricle, saccule, and the semicircular, utriculosaccular, and endolymphatic ducts " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004518 absent vestibular hair cell stereocilia "complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004731 increased circulating gastrin level "greater concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004737 absent distortion product otoacoustic emissions "failure to create mechanical distortions in the inner ear when two primary tones are presented, indicating failure of outer hair cells to amplify basilar membrane motion" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm2Kpfe/Kcnq1tm2Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0005211 increased thickness of gastric mucosa "greater than the normal depth or width of the epithelial layer of the stomach" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:77398]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005307 head tossing "compulsive flailing of the head in multiple directions" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Il7tm1Hms/Il7tm1Hms
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Kcnq1vtg-3J/Kcnq1vtg-3J
Genetic Background: C57BL/6J-Kcnq1vtg-3J/J

Allelic Composition: Kcnq1vtg-4J/Kcnq1vtg-4J
Genetic Background: B6.NOD-Kcnq1vtg-4J/J

Allelic Composition: Kcnq1m1Anu/?
Genetic Background: involves: BALB/c * C57BL/6 * DBA/2

 MP:0005424 jerky movement "continuous, abrupt, faltering motions of the whole body or a portion of the body" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Kcnq1m1Anu/?
Genetic Background: involves: BALB/c * C57BL/6 * DBA/2

 MP:0006024 collapsed Reissner membrane "the Reissner s membrane, which normally separates the scala media from the scala vestibuli, has collapsed onto the spiral limbus and the tectorial membrane of the organ of Corti" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, smb:Susan M Bello, Mouse Genome Informatics Curator, J:37461:]
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Allelic Composition: Kcnq1tm2Kpfe/Kcnq1tm2Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0006089 abnormal saccule morphology "malformation in the smaller of the two sacs in the vestibule" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99, J:92940]
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Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0006090 abnormal utricle morphology "malformation in the larger of the two sacs in the vestibule" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99, J:92940]
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Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0006330 syndromic hearing impairment "hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm2Kpfe/Kcnq1tm2Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0006358 absent pinna reflex "complete failure to respond to an auditory stimulus by a characteristic ear twitch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm2Kpfe/Kcnq1tm2Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008001 hypochlorhydria "reduced hydrochloric acid content of the gastric secretions" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008006 increased stomach pH "change in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, such that the acidity is decreased, as indicated by the decreased concentration of hydrogen ion" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008308 small scala media "reduced size of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010323 retropulsion "a tendency to step or walk backwards" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1vtg-3J/Kcnq1vtg-3J
Genetic Background: C57BL/6J-Kcnq1vtg-3J/J

 MP:0010392 prolonged QRS complex duration "increase in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0010505 abnormal T wave "any anomaly in the T wave which is normally caused by the repolarization (or recovery) of the ventricles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm2Kpfe/Kcnq1tm2Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0010508 abnormal heart electrocardiography waveform feature "any anomaly in the pattern of the graphic record of the integrated action currents of the cardiac cycle represented as changes in voltage; the prominent waves in the ECG correspond to specific conduction activity in areas of the heart and the timing and amplitude of ECG waveforms provide valuable information about heart rate and rhythm" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:20410536]
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Allelic Composition: Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0010634 increased QRS amplitude "increased in the size (height or maximum displacement) of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction, suggesting ventricular excitation defects" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm2Kpfe/Kcnq1tm2Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0010799 stomach mucosa hyperplasia "overdevelopment or increased size, usually due to an increase in the number of cells, of the mucous layer of the stomach wall which contains the gastric pits and glands, and consists of epithelium, lamina propria, and the muscularis mucosae" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Kcnq1tm2Kpfe/Kcnq1tm2Kpfe
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0013566 dilated gastric glands "stretched or widened aperture of the luminal space of any of the branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin" [MGI:Anna]
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Allelic Composition: Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000009545 Kcnq1 / P97414 / Potassium voltage-gated channel subfamily KQT member 1 / P51787* / potassium voltage-gated channel subfamily Q member 1*  / complex
 ENSMUSG00000039639 Kcne1 / P23299 / Potassium voltage-gated channel subfamily E member 1 / KCNE1B* / P15382* / A0A087WTH5* / potassium voltage-gated channel subfamily E regulatory subunit 1* / potassium volt...  / complex
 ENSMUSG00000039672 Kcne2 / Mus musculus potassium voltage-gated channel, Isk-related subfamily, 2 (Kcne2), transcript variant 2, mRNA. / Q9Y6J6* / potassium voltage-gated channel subfamily E regulatory subunit 2*  / complex






 

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