Kcnq1ot1 MGI Mouse Gene Detail - MGI:1926855 - KCNQ1 overlapping transcript 1

Symbol

Kcnq1ot1
Name

KCNQ1 overlapping transcript 1
Synonyms

Kvlqt1-as, Lit1, Tssc8

Feature Type

lncRNA gene
IDs

MGI:1926855
NCBI Gene: 63830
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr7:142766848-142850284 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 88.15 cM
Mapping Data

8 experiments

SNPs within 2kb

1678 from dbSNP Build 142
Strain Annotations

18
PCR

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1926855	lncRNA gene	Chr7:142731562-142850286 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0004525	antisense lncRNA gene	Chr7:148501128-148581252 (-)
A/J	MGP_AJ_G0004505	antisense lncRNA gene	Chr7:144194988-144279146 (-)
AKR/J	MGP_AKRJ_G0004488	antisense lncRNA gene	Chr7:148245318-148329911 (-)
BALB/cJ	MGP_BALBcJ_G0004490	antisense lncRNA gene	Chr7:143971895-144061794 (-)
C3H/HeJ	MGP_C3HHeJ_G0004439	antisense lncRNA gene	Chr7:148007446-148093893 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0004640	antisense lncRNA gene	Chr7:153865226-153958929 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0004094	antisense lncRNA gene	Chr7:145409242-145489715 (-)
CAST/EiJ	MGP_CASTEiJ_G0004399	antisense lncRNA gene	Chr7:140311752-140398676 (-)
CBA/J	MGP_CBAJ_G0004434	antisense lncRNA gene	Chr7:159129029-159213362 (-)
DBA/2J	MGP_DBA2J_G0004448	antisense lncRNA gene	Chr7:142168455-142251232 (-)
FVB/NJ	MGP_FVBNJ_G0004465	antisense lncRNA gene	Chr7:142093325-142178121 (-)
LP/J	MGP_LPJ_G0004529	antisense lncRNA gene	Chr7:150025760-150117515 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0004454	antisense lncRNA gene	Chr7:159712398-159811741 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0004639	antisense lncRNA gene	Chr7:147210806-147293388 (-)
PWK/PhJ	MGP_PWKPhJ_G0004352	antisense lncRNA gene	Chr7:135474127-135562977 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0004293	antisense lncRNA gene	Chr7:134015576-134105281 (-)
WSB/EiJ	MGP_WSBEiJ_G0004438	antisense lncRNA gene	Chr7:148215047-148296153 (-)

Human Ortholog

KCNQ1OT1, KCNQ1 opposite strand/antisense transcript 1

Vertebrate Orthologs

1

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KCNQ1OT1, KCNQ1 opposite strand/antisense transcript 1
Synonyms

KCNQ10T1, KCNQ1-AS2, Kncq1, KvDMR1, KvLQT1-AS, LIT1, NCRNA00012
Links

HGNC:6295

NCBI Gene ID: 10984
Chr Location

11p15.5; chr11:2597308-2700003 (-) GRCh38

MGI Vertebrate Homology

Kcnq1ot1 stringent orthology
1 human;1 mouse
HCOP

vertebrate homology predictions: KCNQ1OT1
Gene Tree

Kcnq1ot1

Diseases

1 with human KCNQ1OT1 associations

				Human Disease	Mouse Models
				Beckwith-Wiedemann syndrome IDs Beckwith-Wiedemann syndrome DOID:5572 ICD10CM:Q87.3 MESH:D001506 NCI:C34415 OMIM:130650 ORDO:116 UMLS_CUI:C0004903

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

15 phenotypes from 9 alleles in 8 genetic backgrounds
3 phenotypes from multigenic genotypes
19 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	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	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

17
Gene trapped

6
Targeted

11
Find Mice (IMSR)

0 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice heterozygous for any of several independently generated targeted alleles exhibit abnormal imprinting and may display a growth deficiency.

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All GO Annotations

12
GO References

4

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

821
Tissues

25
cDNA Data

24
Literature Summary

30

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

56
RefSeq

1

Ensembl

ENSMUSG00000101609 (Evidence)
NCBI Gene

63830

Representative Sequences				Length	Strain/Species	Flank
	genomic	63830	NCBI Gene Model \| MGI Sequence Detail	83437	C57BL/6J	± kb
	transcript	NR_001461	RefSeq \| MGI Sequence Detail	90612	C57BL/6

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All nucleic 43

Genomic 1

cDNA 25

Primer pair 17

Microarray probesets 5

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MGI:1930304

Summaries

All 68

Developmental Gene Expression 30

Gene Ontology 4

Phenotypes 19
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:351483 Durr AJ, et al., Manipulation of the miR-378a/mt-ATP6 regulatory axis rescues ATP synthase in the diabetic heart and offers a novel role for lncRNA Kcnq1ot1. Am J Physiol Cell Physiol. 2022 Mar 1;322(3):C482-C495

TSS for Kcnq1ot1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr75933	Chr7:142850266-142850303 (-)	-1 bp
Tssr75932	Chr7:142850251-142850262 (-)	27 bp
Tssr75931	Chr7:142827507-142827512 (-)	22,774 bp
Tssr75930	Chr7:142804202-142804209 (-)	46,078 bp
Tssr75929	Chr7:142796449-142796457 (-)	53,831 bp
Tssr75928	Chr7:142796305-142796320 (-)	53,971 bp
Tssr75927	Chr7:142796189-142796211 (-)	54,084 bp
Tssr75926	Chr7:142795159-142795178 (-)	55,115 bp
Tssr75925	Chr7:142791933-142791946 (-)	58,344 bp
Tssr75924	Chr7:142791827-142791840 (-)	58,450 bp
Tssr75923	Chr7:142784007-142784019 (-)	66,271 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24