Tbx6 MGI Mouse Gene Detail - MGI:102539

Symbol

Tbx6
Name

T-box 6

Feature Type

protein coding gene
IDs

MGI:102539
NCBI Gene: 21389
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr7:126380655-126384720 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 69.25 cM
Mapping Data

6 experiments

SNPs within 2kb

117 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_102539	protein coding gene	Chr7:126380655-126384732 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0032998	protein coding gene	Chr7:131079843-131083920 (+)
A/J	MGP_AJ_G0032981	protein coding gene	Chr7:127607248-127611325 (+)
AKR/J	MGP_AKRJ_G0032913	protein coding gene	Chr7:130840983-130845061 (+)
BALB/cJ	MGP_BALBcJ_G0032986	protein coding gene	Chr7:127268738-127272816 (+)
C3H/HeJ	MGP_C3HHeJ_G0032696	protein coding gene	Chr7:130778676-130782753 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0033492	protein coding gene	Chr7:136174240-136178317 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0030464	protein coding gene	Chr7:128799670-128803736 (+)
CAST/EiJ	MGP_CASTEiJ_G0032025	protein coding gene	Chr7:122565580-122569645 (+)
CBA/J	MGP_CBAJ_G0032669	protein coding gene	Chr7:140757667-140761744 (+)
DBA/2J	MGP_DBA2J_G0032821	protein coding gene	Chr7:125581016-125585093 (+)
FVB/NJ	MGP_FVBNJ_G0032774	protein coding gene	Chr7:125429714-125433791 (+)
LP/J	MGP_LPJ_G0032915	protein coding gene	Chr7:132550209-132554286 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032806	protein coding gene	Chr7:141938957-141943035 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0033511	protein coding gene	Chr7:129847091-129851168 (+)
PWK/PhJ	MGP_PWKPhJ_G0031732	protein coding gene	Chr7:118575989-118580066 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0031578	protein coding gene	Chr7:116698067-116702146 (+)
WSB/EiJ	MGP_WSBEiJ_G0032137	protein coding gene	Chr7:130827766-130831843 (+)

Human Ortholog

TBX6, T-box transcription factor 6

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TBX6, T-box transcription factor 6
Synonyms

SCDO5
Links

HGNC:11605

NCBI Gene ID: 6911

neXtProt AC: NX_O95947

UniProt: O95947
Chr Location

16p11.2; chr16:30085793-30091924 (-) GRCh38

MGI Vertebrate Homology

Tbx6 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: TBX6
Gene Tree

Tbx6

Diseases

1 with human TBX6 associations

				Human Disease	Mouse Models
				spondylocostal dysostosis 5 IDs spondylocostal dysostosis 5 DOID:0112363 OMIM:122600

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

Mutations/Alleles

1 with disease annotations

References

4 with disease annotations

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Phenotype Summary

19 phenotypes from 6 alleles in 8 genetic backgrounds
33 phenotypes from multigenic genotypes
1 images
63 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

21
Chemically induced (ENU)

1
Endonuclease-mediated

5
Spontaneous

1
Targeted

13
Transgenic

1
Genomic Mutations

9 involving Tbx6
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

17 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Homozygous null embryos die during organogenesis exhibiting defects in paraxial mesoderm differentiation, ectopic neural tube development, kinked neural tubes, impaired somite development, hematomas, enlarged tail buds, and laterality defects associated with nodal cilium anomalies.

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All GO Annotations

27
GO References

11

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

1110
Tissues

167
cDNA Data

12
Literature Summary

114

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tbx6

ZFIN tbx16l, tbx6

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All Sequences

33
RefSeq

2
UniProt

1
CCDS

CCDS21843.1

Ensembl

ENSMUSG00000030699 (Evidence)
NCBI Gene

21389

			Length	Strain/Species	Flank
genomic	21389	NCBI Gene Model \| MGI Sequence Detail	4066	C57BL/6J	± kb
transcript	NM_011538	RefSeq \| MGI Sequence Detail	1731	ZRU/MplStud
polypeptide	P70327	UniProt \| EBI \| MGI Sequence Detail	436	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000016154 T-box transcription factor TBX6

(term hierarchy)
InterPro Domains

IPR008967 p53-like transcription factor, DNA-binding domain superfamily

IPR036960 T-box superfamily

IPR001699 T-box transcription factor

IPR046360 T-box transcription factor, DNA-binding domain

IPR002070 Transcription factor, Brachyury

IPR018186 Transcription factor, T-box, conserved site

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All nucleic 36

cDNA 14

Primer pair 3

Other 19

Microarray probesets 3

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MGD-MRK-14254, MGD-MRK-19388, MGI:98208

Summaries

All 200

Developmental Gene Expression 114

Diseases 4

Gene Ontology 11

Phenotypes 63
Earliest

J:8119 Theiler K, et al., Development of rib-vertebrae: a new mutation in the house mouse with accessory caudal duplications. Anat Embryol (Berl). 1985;173(1):111-6
Latest

J:349484 Henis M, et al., The autism susceptibility kinase, TAOK2, phosphorylates eEF2 and modulates translation. Sci Adv. 2024 Apr 12;10(15):eadf7001

TSS for Tbx6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr69080	Chr7:126379459-126379473 (+)	-1,189 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