Tbx4 MGI Mouse Gene Detail - MGI:102556

Symbol

Tbx4
Name

T-box 4

Feature Type

protein coding gene
IDs

MGI:102556
NCBI Gene: 21387
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr11:85777248-85806923 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 51.42 cM
Mapping Data

3 experiments

SNPs within 2kb

725 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_102556	protein coding gene	Chr11:85777193-85806923 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018885	protein coding gene	Chr11:87419267-87452154 (+)
A/J	MGP_AJ_G0018852	protein coding gene	Chr11:84059137-84089611 (+)
AKR/J	MGP_AKRJ_G0018822	protein coding gene	Chr11:86577955-86607561 (+)
BALB/cJ	MGP_BALBcJ_G0018825	protein coding gene	Chr11:84445041-84475637 (+)
C3H/HeJ	MGP_C3HHeJ_G0018639	protein coding gene	Chr11:86598800-86630420 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019277	protein coding gene	Chr11:90074797-90109441 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016910	protein coding gene	Chr11:81097705-81127567 (+)
CAST/EiJ	MGP_CASTEiJ_G0018194	protein coding gene	Chr11:87258213-87290209 (+)
CBA/J	MGP_CBAJ_G0018610	protein coding gene	Chr11:93871094-93905343 (+)
DBA/2J	MGP_DBA2J_G0018718	protein coding gene	Chr11:83637955-83667510 (+)
FVB/NJ	MGP_FVBNJ_G0018707	protein coding gene	Chr11:83131277-83162304 (+)
LP/J	MGP_LPJ_G0018788	protein coding gene	Chr11:87920301-87950523 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018734	protein coding gene	Chr11:93988739-94020607 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019317	protein coding gene	Chr11:86818956-86849049 (+)
PWK/PhJ	MGP_PWKPhJ_G0017963	protein coding gene	Chr11:84416039-84445987 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017755	protein coding gene	Chr11:86363091-86392785 (+)
WSB/EiJ	MGP_WSBEiJ_G0018245	protein coding gene	Chr11:86675415-86706275 (+)

Human Ortholog

TBX4, T-box transcription factor 4

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TBX4, T-box transcription factor 4
Synonyms

ICPPS, PAPPAS, SPS
Links

HGNC:11603

NCBI Gene ID: 9496

neXtProt AC: NX_P57082

UniProt: P57082
Chr Location

17q23.2; chr17:61452404-61485110 (+) GRCh38

MGI Vertebrate Homology

Tbx4 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TBX4
Gene Tree

Tbx4

Diseases

2 with human TBX4 associations

				Human Disease	Mouse Models
				arthropathy IDs arthropathy DOID:381 DOID:13871 DOID:13960 DOID:1843 DOID:1903 DOID:226 DOID:2317 DOID:2318 DOID:546 DOID:9489 ICD10CM:M00-M02 ICD10CM:M12.9 ICD9CM:711 ICD9CM:716.9 ICD9CM:716.90 ICD9CM:719.9 ICD9CM:719.90 MESH:D007592 NCI:C35760 NCI:C78402 UMLS_CUI:C0022408 UMLS_CUI:C0157749
				ischiocoxopodopatellar syndrome IDs ischiocoxopodopatellar syndrome DOID:0111382 MESH:C535540 MESH:C536307 OMIM:147891 ORDO:1509 UMLS_CUI:C1840061 UMLS_CUI:C1868581

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

less

Phenotype Summary

41 phenotypes from 6 alleles in 7 genetic backgrounds
2 phenotypes from multigenic genotypes
37 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
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

1
Targeted

13
Genomic Mutations

2 involving Tbx4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

23 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Homozygotes for targeted null mutations exhibit stunted, apoptotic allantoises lacking vascular remodeling, fail to undergo chorioallantoic fusion, lack hindlimb buds, and die by embryonic day 10.5. Heterozygotes show mildly impaired allantois growth.

less

All GO Annotations

25
GO References

10

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.

less

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

1151
Tissues

204
cDNA Data

19
Literature Summary

90

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA TBX4

ZFIN tbx4

less

All Sequences

41
RefSeq

4
UniProt

2
CCDS

CCDS25196.1, CCDS48874.1

Ensembl

ENSMUSG00000000094 (Evidence)
NCBI Gene

21387

			Length	Strain/Species	Flank
genomic	ENSMUSG00000000094	Ensembl Gene Model \| MGI Sequence Detail	29676	C57BL/6J	± kb
transcript	ENSMUST00000108047	Ensembl \| MGI Sequence Detail	3153	Not Applicable
polypeptide	ENSMUSP00000103682	Ensembl \| MGI Sequence Detail	552	Not Applicable

less

UniProt

2 Sequences
Protein Ontology

PR:000016152 T-box transcription factor TBX4

(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

IPR018186 Transcription factor, T-box, conserved site

less

All nucleic 50

Genomic 3

cDNA 19

Primer pair 7

Other 21

Microarray probesets 3

less

MGD-MRK-19405

Summaries

All 151

Developmental Gene Expression 90

Gene Ontology 10

Phenotypes 37
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:347865 Chen KQ, et al., Sall genes regulate hindlimb initiation in mouse embryos. Genetics. 2024 Feb 22;

TSS for Tbx4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr103861	Chr11:85776886-85776899 (+)	-355 bp
Tssr103862	Chr11:85777186-85777244 (+)	-33 bp
Tssr103863	Chr11:85780659-85780674 (+)	3,419 bp
Tssr103864	Chr11:85780807-85780832 (+)	3,572 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