Tbx3 MGI Mouse Gene Detail - MGI:98495

Symbol

Tbx3
Name

T-box 3
Synonyms

D5Ertd189e

Feature Type

protein coding gene
IDs

MGI:98495
NCBI Gene: 21386
Gene Overview

MyGene.info: TBX3
Alliance

gene page
Transcription Start Sites

22 TSS

Sequence Map

Chr5:119670669-119684724 bp, + strand
From Ensembl annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 60.34 cM
Mapping Data

7 experiments

SNPs within 2kb

64 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_98495	protein coding gene	Chr5:119670534-119684724 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029998	protein coding gene	Chr5:122954973-122969033 (+)
A/J	MGP_AJ_G0029962	protein coding gene	Chr5:117890159-117904968 (+)
AKR/J	MGP_AKRJ_G0029901	protein coding gene	Chr5:121697510-121711426 (+)
BALB/cJ	MGP_BALBcJ_G0029973	protein coding gene	Chr5:119313077-119327180 (+)
C3H/HeJ	MGP_C3HHeJ_G0029693	protein coding gene	Chr5:122233838-122247969 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0030428	protein coding gene	Chr5:127587314-127603408 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027654	protein coding gene	Chr5:112627918-112641945 (+)
CAST/EiJ	MGP_CASTEiJ_G0029102	protein coding gene	Chr5:121317421-121333411 (+)
CBA/J	MGP_CBAJ_G0029661	protein coding gene	Chr5:132547312-132561321 (+)
DBA/2J	MGP_DBA2J_G0029811	protein coding gene	Chr5:117985364-117999859 (+)
FVB/NJ	MGP_FVBNJ_G0029767	protein coding gene	Chr5:116895314-116909389 (+)
LP/J	MGP_LPJ_G0029899	protein coding gene	Chr5:123442141-123456182 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029798	protein coding gene	Chr5:136576594-136590629 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030469	protein coding gene	Chr5:121265083-121279108 (+)
PWK/PhJ	MGP_PWKPhJ_G0028815	protein coding gene	Chr5:116731048-116745526 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0028653	protein coding gene	Chr5:118904566-118918546 (+)
WSB/EiJ	MGP_WSBEiJ_G0029177	protein coding gene	Chr5:121854546-121868578 (+)

Human Ortholog

TBX3, T-box transcription factor 3

Vertebrate Orthologs

10

Human Ortholog

TBX3, T-box transcription factor 3
Orthology source: HomoloGene, HGNC
Synonyms

TBX3-ISO, UMS, XHL
Links

HGNC:11602

NCBI Gene ID: 6926

neXtProt AC: NX_O15119

UniProt: O15119
Chr Location

12q24.21; chr12:114670254-114684164 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 4371
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: TBX3
Protein SuperFamily

transcription factor Tbx2
Gene Tree

Tbx3

Diseases

1 with Tbx3 mouse models; 1 with human TBX3 associations

Human Disease

Mouse Models

ulnar-mammary syndrome

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

70 phenotypes from 8 alleles in 8 genetic backgrounds
13 phenotypes from multigenic genotypes
6 images
38 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

33
Chemically induced (other)

1
Gene trapped

20
Radiation induced

1
Targeted

10
Transgenic

1
Genomic Mutations

2 involving Tbx3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

15 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice die are embryonic lethal exhibiting defects in the yolk sac and limb defects. Female embryos show impaired mammary bud induction. Mice homozygous for hypomorphic alleles exhibit varying degrees of prenatal lethality and premature death, heart defects and limb abnormalities.

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All GO Annotations

76
GO References

24

External Resources

FuncBase

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

1248
Tissues

316
cDNA Data

25
Literature Summary

150

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

GEISHA TBX3

Xenbase tbx3

ZFIN tbx3a

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Tbx3 interacts with 225 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

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All Sequences

66
RefSeq

6
UniProt

8
CCDS

CCDS19613.1, CCDS19614.1

Ensembl

ENSMUSG00000018604 (Evidence)
NCBI Gene

21386

			Length	Strain/Species	Flank
genomic	ENSMUSG00000018604	Ensembl Gene Model \| MGI Sequence Detail	14056	C57BL/6J	± kb
transcript	ENSMUST00000018748	Ensembl \| MGI Sequence Detail	4856	Not Applicable
polypeptide	ENSMUSP00000018748	Ensembl \| MGI Sequence Detail	741	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000016151 T-box transcription factor TBX3

(term hierarchy)
InterPro Domains

IPR008967 p53-like transcription factor, DNA-binding

IPR036960 T-box superfamily

IPR002070 Transcription factor, Brachyury

IPR001699 Transcription factor, T-box

IPR018186 Transcription factor, T-box, conserved site

IPR022582 Transcription factor, T-box, region of unknown function

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All nucleic 37

cDNA 26

Primer pair 10

Other 1

Microarray probesets 7

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MGD-MRK-14732, MGI:1098785

Summaries

All 215

Developmental Gene Expression 150

Diseases 1

Gene Ontology 24

Phenotypes 38
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:283343 Bastida MF, et al., The formation of the thumb requires direct modulation of Gli3 transcription by Hoxa13. Proc Natl Acad Sci U S A. 2020 Jan 14;117(2):1090-1096

TSS for Tbx3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr48453	Chr5:119670400-119670407 (+)	-265 bp
Tssr48454	Chr5:119670658-119670676 (+)	-2 bp
Tssr48455	Chr5:119670699-119670704 (+)	33 bp
Tssr1615	Chr5:119670712-119670721 (+)	48 bp
Tssr1616	Chr5:119670726-119670730 (+)	59 bp
Tssr48456	Chr5:119670798-119670801 (+)	131 bp
Tssr48457	Chr5:119670825-119670836 (+)	162 bp
Tssr48458	Chr5:119670972-119670983 (+)	309 bp
Tssr1617	Chr5:119670984-119670991 (+)	319 bp
Tssr48459	Chr5:119671011-119671040 (+)	357 bp
Tssr48460	Chr5:119671082-119671091 (+)	418 bp
Tssr48461	Chr5:119671160-119671162 (+)	492 bp
Tssr48462	Chr5:119671253-119671273 (+)	594 bp
Tssr48463	Chr5:119671437-119671452 (+)	776 bp
Tssr48464	Chr5:119671590-119671613 (+)	933 bp
Tssr48465	Chr5:119671652-119671662 (+)	988 bp
Tssr48466	Chr5:119671683-119671699 (+)	1,022 bp
Tssr48467	Chr5:119671828-119671864 (+)	1,177 bp
Tssr48468	Chr5:119680221-119680236 (+)	9,560 bp
Tssr48469	Chr5:119680266-119680287 (+)	9,608 bp
Tssr48470	Chr5:119680368-119680423 (+)	9,727 bp
Tssr48471	Chr5:119681012-119681013 (+)	10,344 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 & Copyright Notice Send questions and comments to User Support.	last database update 03/31/2020 MGI 6.15