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Search results 601 to 680 out of 680 for Kcnq1

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0.041s
Type Details Score
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S1/Sv * C57BL/6 * M. spretus
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S1/Sv * C57BL/6 * M. spretus
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S1/Sv * C57BL/6 * M. spretus
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S1/Sv * C57BL/6 * M. spretus
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S4/SvJae * C57BL/6J * FVB/N
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S4/SvJae * C57BL/6 * FVB/N
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S4/SvJae * C57BL/6 * FVB/N
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * M. spretus
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S1/Sv * M. spretus
Zygosity: ht
Has Mutant Allele: true
Protein
Organism: Mus musculus/domesticus
Length: 668  
Fragment?: false
Allele
Name: potassium voltage-gated channel, subfamily Q, member 1; targeted mutation 1, Karl Pfeifer
Allele Type: Targeted
Attribute String: Null/knockout
Genotype
Symbol: Kcnq1/Kcnq1
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: hm
Has Mutant Allele: true
Publication
First Author: Sanguinetti MC
Year: 2000
Journal: Trends Pharmacol Sci
Title: Maximal function of minimal K+ channel subunits.
Volume: 21
Issue: 6
Pages: 199-201
Publication
First Author: Wang Q
Year: 1996
Journal: Nat Genet
Title: Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
Volume: 12
Issue: 1
Pages: 17-23
Publication
First Author: Biervert C
Year: 1998
Journal: Science
Title: A potassium channel mutation in neonatal human epilepsy.
Volume: 279
Issue: 5349
Pages: 403-6
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+> Del(7Ins2-Tel)1Lef/?
Background: involves: 129 * C57BL/6 * ICR
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+> Meox2/Meox2<+>
Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SD7
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+> Tg(CAG-cre/Esr1*)5Amc/?
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SD7
Zygosity: cn
Has Mutant Allele: true
Publication
First Author: Zhao J
Year: 2010
Journal: Mol Cell
Title: Genome-wide identification of polycomb-associated RNAs by RIP-seq.
Volume: 40
Issue: 6
Pages: 939-53
Publication
First Author: Ogawa H
Year: 2006
Journal: FEBS Lett
Title: Disruption of parental-specific expression of imprinted genes in uniparental fetuses.
Volume: 580
Issue: 22
Pages: 5377-84
Genotype
Symbol: Ascl2/Ascl2<+> Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129 * C57BL/6 * ICR
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Cdkn1c/Cdkn1c<+> Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129 * C57BL/6
Zygosity: cx
Has Mutant Allele: true
Allele
Name: transgene insertion H08, Denis Escande
Allele Type: Transgenic
Attribute String: Dominant negative, Humanized sequence, Inserted expressed sequence
Allele
Name: transgene insertion 5A2, M Azim Surani
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
Allele
Name: transgene insertion 5D3, M Azim Surani
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
Publication
First Author: Demolombe S
Year: 2001
Journal: Cardiovasc Res
Title: Transgenic mice overexpressing human KvLQT1 dominant-negative isoform. Part I: Phenotypic characterisation.
Volume: 50
Issue: 2
Pages: 314-27
Strain
Attribute String: transgenic, mutant strain, congenic
Strain
Attribute String: congenic, mutant strain, transgenic
Strain
Attribute String: congenic, mutant strain, transgenic
Publication
First Author: McNamara GI
Year: 2016
Journal: Hum Mol Genet
Title: Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome.
Volume: 25
Issue: 24
Pages: 5407-5417
Genotype
Symbol: Tg(Myh6-KCNQ1_i2)H08Desc/?
Background: involves: FVB
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Tg(BAC144D14)5D3Masu/?
Background: B6J.Cg-Tg(BAC144D14)5D3Masu
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Tg(BAC144D14)5A2Masu/?
Background: B6J.Cg-Tg(BAC144D14)5A2Masu
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Tg(BAC144D14)5D3Masu/?
Background: B6.Cg-Tg(BAC144D14)5D3Masu
Zygosity: ot
Has Mutant Allele: true
Publication
First Author: Piccini M
Year: 1999
Journal: Genomics
Title: KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.
Volume: 60
Issue: 3
Pages: 251-7
HT Experiment
Series Id: GSE7674
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress
Publication
First Author: John RM
Year: 2001
Journal: Hum Mol Genet
Title: Distant cis-elements regulate imprinted expression of the mouse p57( Kip2) (Cdkn1c) gene: implications for the human disorder, Beckwith--Wiedemann syndrome.
Volume: 10
Issue: 15
Pages: 1601-9
Publication
First Author: Van De Pette M
Year: 2016
Journal: PLoS Genet
Title: Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome.
Volume: 12
Issue: 3
Pages: e1005916
Publication  
First Author: Andrews SC
Year: 2007
Journal: BMC Dev Biol
Title: Cdkn1c (p57Kip2) is the major regulator of embryonic growth within its imprinted domain on mouse distal chromosome 7.
Volume: 7
Pages: 53
Publication
First Author: Chabannes D
Year: 2001
Journal: Cell Immunol
Title: Mice disrupted for the KvLQT1 potassium channel regulator IsK gene accumulate mature T cells.
Volume: 209
Issue: 1
Pages: 1-9
Publication
First Author: Roepke TK
Year: 2009
Journal: Nat Med
Title: Kcne2 deletion uncovers its crucial role in thyroid hormone biosynthesis.
Volume: 15
Issue: 10
Pages: 1186-94
Publication
First Author: Tempel BL
Year: 1988
Journal: Nature
Title: Cloning of a probable potassium channel gene from mouse brain.
Volume: 332
Issue: 6167
Pages: 837-9
Publication
First Author: Perney TM
Year: 1991
Journal: Curr Opin Cell Biol
Title: The molecular biology of K+ channels.
Volume: 3
Issue: 4
Pages: 663-70
Publication
First Author: Luneau C
Year: 1991
Journal: FEBS Lett
Title: Shaw-like rat brain potassium channel cDNA's with divergent 3' ends.
Volume: 288
Issue: 1-2
Pages: 163-7
Publication
First Author: Attali B
Year: 1992
Journal: J Biol Chem
Title: Cloning, functional expression, and regulation of two K+ channels in human T lymphocytes.
Volume: 267
Issue: 12
Pages: 8650-7
Publication
First Author: Schwarz TL
Year: 1988
Journal: Nature
Title: Multiple potassium-channel components are produced by alternative splicing at the Shaker locus in Drosophila.
Volume: 331
Issue: 6152
Pages: 137-42
Publication
First Author: Stühmer W
Year: 1989
Journal: EMBO J
Title: Molecular basis of functional diversity of voltage-gated potassium channels in mammalian brain.
Volume: 8
Issue: 11
Pages: 3235-44
Publication
First Author: Miller C
Year: 2000
Journal: Genome Biol
Title: An overview of the potassium channel family.
Volume: 1
Issue: 4
Pages: REVIEWS0004
Publication
First Author: de la Casa Esperón E
Year: 2012
Journal: Epigenetics
Title: A genomic reservoir for Tnfrsf genes is developmentally regulated and imprinted in the mouse.
Volume: 7
Issue: 6
Pages: 626-34
Publication
First Author: Weaver JR
Year: 2010
Journal: Mol Cell Biol
Title: Domain-specific response of imprinted genes to reduced DNMT1.
Volume: 30
Issue: 16
Pages: 3916-28
Publication  
First Author: Li Y
Year: 2019
Journal: Cells
Title: Regulation of IKs Potassium Current by Isoproterenol in Adult Cardiomyocytes Requires Type 9 Adenylyl Cyclase.
Volume: 8
Issue: 9
Publication
First Author: Temple J
Year: 2005
Journal: Circ Res
Title: Atrial fibrillation in KCNE1-null mice.
Volume: 97
Issue: 1
Pages: 62-9
Publication
First Author: Neal AM
Year: 2011
Journal: J Physiol
Title: Renal defects in KCNE1 knockout mice are mimicked by chromanol 293B in vivo: identification of a KCNE1-regulated K+ conductance in the proximal tubule.
Volume: 589
Issue: Pt 14
Pages: 3595-609
Publication
First Author: Arrighi I
Year: 2001
Journal: Proc Natl Acad Sci U S A
Title: Altered potassium balance and aldosterone secretion in a mouse model of human congenital long QT syndrome.
Volume: 98
Issue: 15
Pages: 8792-7
Publication
First Author: Puchalski RB
Year: 2001
Journal: Physiol Behav
Title: NaCl consumption is attenuated in female KCNE1 null mutant mice.
Volume: 74
Issue: 3
Pages: 267-76
Publication
First Author: Roepke TK
Year: 2006
Journal: J Biol Chem
Title: The KCNE2 potassium channel ancillary subunit is essential for gastric acid secretion.
Volume: 281
Issue: 33
Pages: 23740-7
Publication
First Author: Salsbury G
Year: 2014
Journal: Exp Hematol
Title: Disruption of the potassium channel regulatory subunit KCNE2 causes iron-deficient anemia.
Volume: 42
Issue: 12
Pages: 1053-8.e1
Publication
First Author: Roepke TK
Year: 2010
Journal: PLoS One
Title: Targeted deletion of Kcne2 causes gastritis cystica profunda and gastric neoplasia.
Volume: 5
Issue: 7
Pages: e11451
Publication
First Author: Lee SM
Year: 2017
Journal: FASEB J
Title: Kcne2 deletion impairs insulin secretion and causes type 2 diabetes mellitus.
Volume: 31
Issue: 6
Pages: 2674-2685
Publication
First Author: Mansén A
Year: 2010
Journal: Acta Physiol (Oxf)
Title: Thyroid hormone receptor alpha can control action potential duration in mouse ventricular myocytes through the KCNE1 ion channel subunit.
Volume: 198
Issue: 2
Pages: 133-42
Publication
First Author: Li Y
Year: 2012
Journal: J Biol Chem
Title: The A-kinase anchoring protein Yotiao facilitates complex formation between adenylyl cyclase type 9 and the IKs potassium channel in heart.
Volume: 287
Issue: 35
Pages: 29815-24
Publication
First Author: Liu C
Year: 2014
Journal: Infect Immun
Title: Gastric de novo Muc13 expression and spasmolytic polypeptide-expressing metaplasia during Helicobacter heilmannii infection.
Volume: 82
Issue: 8
Pages: 3227-39
Publication
First Author: Lu MH
Year: 2012
Journal: J Physiol
Title: Deficiency of sphingomyelin synthase-1 but not sphingomyelin synthase-2 causes hearing impairments in mice.
Volume: 590
Issue: 16
Pages: 4029-44
Publication  
First Author: Wangemann P
Year: 2004
Journal: BMC Med
Title: Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model.
Volume: 2
Pages: 30
Publication  
First Author: Peixoto Pinheiro B
Year: 2021
Journal: Front Aging Neurosci
Title: Auditory Threshold Variability in the SAMP8 Mouse Model of Age-Related Hearing Loss: Functional Loss and Phenotypic Change Precede Outer Hair Cell Loss.
Volume: 13
Pages: 708190
Publication  
First Author: Malloy MA
Year: 2019
Journal: Front Genet
Title: Perinatal Bisphenol A Exposure and Reprogramming of Imprinted Gene Expression in the Adult Mouse Brain.
Volume: 10
Pages: 951
Publication
First Author: Hansen J
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome.
Volume: 100
Issue: 17
Pages: 9918-22
Publication
First Author: McCrossan ZA
Year: 2009
Journal: J Membr Biol
Title: Regulation of the Kv2.1 potassium channel by MinK and MiRP1.
Volume: 228
Issue: 1
Pages: 1-14
Publication
First Author: Abbott GW
Year: 2001
Journal: Cell
Title: MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis.
Volume: 104
Issue: 2
Pages: 217-31
Protein Domain
Type: Family
Description: KCNE1 (Potassium voltage-gated channel subfamily E member 1, also known as Mink) subunits associate with KCNQ1 alpha subunits to form channels that are responsible for the IkS currents that determine the duration of the action potential in cardiac muscle []. Mutations in both of the genes encoding these subunits cause an inherited disorder that increases the risk of death from cardiac arrhythmia (long QT syndrome type 1) and Jervell and Lange-Nielsen syndrome, associated with congenital deafness [].Two types of beta subunit (KCNE and KCNAB) are presently known to associate with voltage-gated alpha subunits (Kv, KCNQ and eag-like). However, not all combinations of alpha and beta subunits are possible. The KCNE family of K+ channel subunits are membrane glycoproteins that possess a single transmembrane (TM) domain. They share no structural relationship with the alpha subunit proteins, which possess pore forming domains. The subunits appear to have a regulatory function, modulating the kinetics and voltage dependence of the alpha subunits of voltage-dependent K+ channels. KCNE subunits are formed from short polypeptides of ~130 amino acids, and are divided into five subfamilies: KCNE1 (MinK/IsK), KCNE2 (MiRP1), KCNE3 (MiRP2), KCNE4 (MiRP3) and KCNE1L (AMMECR2). Potassium channels are the most diverse group of the ion channel family [, ]. They are important in shaping the action potential, and in neuronal excitability and plasticity []. The potassium channel family is composed of several functionally distinct isoforms, which can be broadly separated into 2 groups []: the practically non-inactivating 'delayed' group and the rapidly inactivating 'transient' group.These are all highly similar proteins, with only small amino acid changes causing the diversity of the voltage-dependent gating mechanism, channel conductance and toxin binding properties. Each type of K+channel is activated by different signals and conditions depending on their type of regulation: some open in response to depolarisation of the plasma membrane; others in response to hyperpolarisation or an increase in intracellular calcium concentration; some can be regulated by binding of a transmitter, together with intracellular kinases; while others are regulated by GTP-binding proteins or other second messengers []. In eukaryotic cells, K+channels are involved in neural signalling and generation of the cardiac rhythm, act as effectors in signal transduction pathways involving G protein-coupled receptors (GPCRs) and may have a role in target cell lysis by cytotoxic T-lymphocytes []. In prokaryotic cells, they play a role in the maintenance of ionic homeostasis [].All K+channels discovered so far possess a core of alpha subunits, each comprising either one or two copies of a highly conserved pore loop domain (P-domain). The P-domain contains the sequence (T/SxxTxGxG), which has been termed the K+selectivity sequence. In families that contain one P-domain, four subunits assemble to form a selective pathway for K+across the membrane. However, it remains unclear how the 2 P-domain subunits assemble to form a selective pore. The functional diversity of these families can arise through homo- or hetero-associations of alpha subunits or association with auxiliary cytoplasmic beta subunits. K+channel subunits containing one pore domain can be assigned into one of two superfamilies: those that possess six transmembrane (TM) domains and those that possess only two TM domains. The six TM domain superfamily can be further subdivided into conserved gene families: the voltage-gated (Kv) channels; the KCNQ channels (originally known as KvLQT channels); the EAG-like K+channels; and three types of calcium (Ca)-activated K+channels (BK, IK and SK) []. The 2TM domain family comprises inward-rectifying K+channels. In addition, there are K+channel alpha-subunits that possess two P-domains. These are usually highly regulated K+selective leak channels.
Protein Domain
Type: Family
Description: Potassium channels are the most diverse group of the ion channel family [, ]. They are important in shaping the action potential, and in neuronal excitability and plasticity []. The potassium channel family is composed of several functionally distinct isoforms, which can be broadly separated into 2 groups []: the practically non-inactivating 'delayed' group and the rapidly inactivating 'transient' group.These are all highly similar proteins, with only small amino acid changes causing the diversity of the voltage-dependent gating mechanism, channel conductance and toxin binding properties. Each type of K+channel is activated by different signals and conditions depending on their type of regulation: some open in response to depolarisation of the plasma membrane; others in response to hyperpolarisation or an increase in intracellular calcium concentration; some can be regulated by binding of a transmitter, together with intracellular kinases; while others are regulated by GTP-binding proteins or other second messengers []. In eukaryotic cells, K+channels are involved in neural signalling and generation of the cardiac rhythm, act as effectors in signal transduction pathways involving G protein-coupled receptors (GPCRs) and may have a role in target cell lysis by cytotoxic T-lymphocytes []. In prokaryotic cells, they play a role in the maintenance of ionic homeostasis [].All K+channels discovered so far possess a core of alpha subunits, each comprising either one or two copies of a highly conserved pore loop domain (P-domain). The P-domain contains the sequence (T/SxxTxGxG), which has been termed the K+selectivity sequence. In families that contain one P-domain, four subunits assemble to form a selective pathway for K+across the membrane. However, it remains unclear how the 2 P-domain subunits assemble to form a selective pore. The functional diversity of these families can arise through homo- or hetero-associations of alpha subunits or association with auxiliary cytoplasmic beta subunits. K+channel subunits containing one pore domain can be assigned into one of two superfamilies: those that possess six transmembrane (TM) domains and those that possess only two TM domains. The six TM domain superfamily can be further subdivided into conserved gene families: the voltage-gated (Kv) channels; the KCNQ channels (originally known as KvLQT channels); the EAG-like K+channels; and three types of calcium (Ca)-activated K+channels (BK, IK and SK) []. The 2TM domain family comprises inward-rectifying K+channels. In addition, there are K+channel alpha-subunits that possess two P-domains. These are usually highly regulated K+selective leak channels.Two types of beta subunit (KCNE and KCNAB) are presently known to associate with voltage-gated alpha subunits (Kv, KCNQ and eag-like). However, not all combinations of alpha and beta subunits are possible. The KCNE family of K+ channel subunits are membrane glycoproteins that possess a single transmembrane (TM) domain. They share no structural relationship with the alpha subunit proteins, which possess pore forming domains. The subunits appear to have a regulatory function, modulating the kinetics and voltage dependence of the alpha subunits of voltage-dependent K+ channels. KCNE subunits are formed from short polypeptides of ~130 amino acids, and are divided into five subfamilies: KCNE1 (MinK/IsK), KCNE2 (MiRP1), KCNE3 (MiRP2), KCNE4 (MiRP3) and KCNE1L (AMMECR2). KCNE3 is known to associate with the pore forming subunits KCNQ1, KCNQ4,HERG and Kv3.4. KCNE3 forms complexes with Kv3.4 in skeletal muscle -KCNE3 mutations have been identified in families with skeletal muscledisorders []. In the intestine, KCNE3 associates with KCNQ1 to formchannels that are stimulated by cAMP and are thought to be involved insecretory diarrhoea and cystic fibrosis [].
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data
Publication      
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
Protein
Organism: Mus musculus/domesticus
Length: 103  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 129  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 103  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 129  
Fragment?: false
Publication
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
Publication
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73