About   Help   FAQ
Tour our new Quick Search
Kcnq1 Gene Detail
 Symbol
Name
ID
Kcnq1
potassium voltage-gated channel, subfamily Q, member 1
MGI:108083

Nomenclature History
Synonyms Kcna9, KVLQT1
Genetic Map
Chromosome 7
69.3 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 20)

Sequence Map
Chr7:150293159-150612947 bp, + strand
(From NCBI annotation of NCBI Build 37)
Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; cattle; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Kcnq1 ± 2 cM)
Protein SuperFamily: potassium voltage-gated channel, subfamily KQT
TreeFam: TF315186
Sequences
Representative Sequences Length Strain/Species Flank
genomic 16535 NCBI Gene Model | MGI Sequence Detail 319789 C57BL/6J ± Kb
transcript NM_008434 RefSeq | MGI Sequence Detail 3052 FVB/N
polypeptide P97414 UniProt | EBI | MGI Sequence Detail 668 Not Applicable
For the selected sequences
All sequences(37)
Alleles
and
phenotypes 		All alleles(18) : Targeted, knock-out(2) Targeted, other(3) Gene trapped(9) Spontaneous(3) Chemically induced(1)
Homozygous targeted null or spontaneous mutants show circling and head-tossing behavior and are deaf with inner ear dysmorphology. Paternal inheritance of a deletion of an imprinted control region within an intron of this gene results in small body size.
Associated Human Diseases (2)   Alleles Annotated to Human Diseases (4)   Phenotype Images (4)  
Polymorphisms PCR(3) SNPs within 2kb(834 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(21)
Process gene silencing, genetic imprinting...
Component cytoplasmic vesicle, integral to membrane...
Function ion channel activity, potassium channel activity...
External Resources: MouseFunc
Expression Literature Summary: (27 records)
Data Summary: Assays (31)    Results (223)    Tissues (64)    Images (4)
Theiler Stages: 4,9,11,13,15,17,20,21,22,23,24,25,28
  Assay Type Assays   Results
      RT-PCR 27   200
      RNA in situ 1   1
      Northern blot 3   22
cDNA source data(6)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents 		All nucleic(88) Genomic(66) cDNA(6) Primer pair(16)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000009545
DoTS DT.101293585, DT.110980537, DT.110980548, DT.110980571, DT.110980577, DT.40135063
DFCI TC1584003
NIA Mouse Gene Index U008991, U065713, U067339, U096242
Entrez Gene 16535
International Mouse Knockout Project Status Kcnq1
Protein
domains
InterPro ID Description
IPR003091 Voltage-dependent potassium channel
IPR003937 Potassium channel, voltage dependent, KCNQ
IPR005821 Ion transport
IPR005827 Potassium channel, voltage dependent, KCNQ1, subgroup 1
IPR013099 Ion transport 2
IPR013821 Potassium channel, voltage dependent, KCNQ, C-terminal
Graphical View of Protein Domain Structure
References
(Earliest) J:10529 Bastian H et al., "A murine even-skipped homologue, Evx 1, is expressed during early embryogenesis and neurogenesis in a biphasic manner [published erratum appears in EMBO J 1991 Dec;10(12):3978]" EMBO J 1990 Jun;9(6):1839-52
(Latest) J:148694 Boini KM et al., "Enhanced insulin sensitivity of gene-targeted mice lacking functional KCNQ1." Am J Physiol Regul Integr Comp Physiol 2009 Jun;296(6):R1695-701
All references(61)
Other
accession IDs 		MGD-MRK-37120, MGI:2142270
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support. 		last database update
11/20/2009
MGI_4.31
Web browser compatibility 		The Jackson Laboratory