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Kcnq1ot1 Gene Detail
Summary
  • Symbol
    Kcnq1ot1
  • Name
    KCNQ1 overlapping transcript 1
  • Synonyms
    Kvlqt1-as, Lit1, Tssc8
  • Feature Type
    antisense lncRNA gene
  • IDs
    MGI:1926855
    NCBI Gene: 63830
  • Gene Overview
    MyGene.info: KCNQ1OT1
Location & Maps
more
  • Sequence Map
    Chr7:143212155-143296549 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      84395 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 88.15 cM
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    KCNQ1OT1, KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
  • Human Ortholog
    KCNQ1OT1, KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
    Orthology source: HGNC
  • Synonyms
    KCNQ10T1, KCNQ1-AS2, Kncq1, KvDMR1, KvLQT1-AS, LIT1, NCRNA00012
  • Links
    NCBI Gene ID: 10984

  • Chr Location
    11p15; chr11:2608328-2699998 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human KCNQ1OT1 associations

Human Disease Mouse Models
       Beckwith-Wiedemann Syndrome; BWS   OMIM: 130650
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    15 phenotypes from 9 alleles in 8 genetic backgrounds
    3 phenotypes from multigenic genotypes
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    17
  • Gene trapped
    6
  • Targeted
    11
Mice heterozygous for any of several independently generated targeted alleles exhibit abnormal imprinting and may display a growth deficiency.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Sequences &
Gene Models
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  • All Sequences
  • RefSeq
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000046380 VEGA Gene Model | MGI Sequence Detail 84395 C57BL/6J ±  kb
transcript NR_001461 RefSeq | MGI Sequence Detail 83437 C57BL/6  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    487 from dbSNP Build 142
  • PCR
Molecular
Reagents
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  • All nucleic 31
    Genomic 1
    cDNA 22
    Primer pair 8

    Microarray probesets 5
Other
Accession IDs
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MGI:1930304
References
more
  • Summaries
    All 59
    Developmental Gene Expression 23
    Gene Ontology 3
    Phenotypes 17
  • 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:223739 Asahara S, et al., Paternal allelic mutation at the Kcnq1 locus reduces pancreatic beta-cell mass by epigenetic modification of Cdkn1c. Proc Natl Acad Sci U S A. 2015 Jul 7;112(27):8332-7

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory