Tbx1 Gene Summary [Mouse]
Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including outflow tract septum morphogenesis; positive regulation of cell population proliferation; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including circulatory system development; embryonic organ morphogenesis; and regulation of DNA-templated transcription. Located in nucleus. Is expressed in several structures, including alimentary system; branchial arch; ear; embryo mesenchyme; and heart. Used to study DiGeorge syndrome; autism spectrum disorder; chromosome 22q11.2 deletion syndrome, distal; otitis media; and velocardiofacial syndrome. Human ortholog(s) of this gene implicated in several diseases, including DiGeorge syndrome; congenital heart disease (multiple); hypoparathyroidism; sensorineural hearing loss; and velocardiofacial syndrome. Orthologous to human TBX1 (T-box transcription factor 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Tbx1 |
| Official Name | T-box 1 [Source:MGI Symbol;Acc:MGI:98493] |
| Ensembl ID | ENSMUSG00000009097 |
| Bio databases IDs | |
| Aliases | T-box 1 |
| Synonyms | brachyury, CAFS, CATCH22, CTHM, DGCR, DGS, DORV, nmf219, T-box 1, T-box transcription factor 1, TBX1C, TGA, VCF, VCFS |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Tbx1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein dimerization
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- T-box
- double-stranded DNA binding
- nucleic acid binding
- DNA-binding domain of the T-box transcription factor family
- protein homodimerization
- protein binding
- sequence-specific DNA binding
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- head and neck neoplasia
- conotruncal anomaly face syndrome
- adenoid cystic carcinoma
- DiGeorge syndrome
- KBG syndrome
- prostatic carcinoma
- prostate cancer
- hypoplasia
- double outlet right ventricle
phenotypes
- aberrant origin of the right subclavian artery
- abnormal accessory nerve morphology
- abnormal aortic arch morphology
- abnormal arcus anterior morphology
- abnormal artery development
- abnormal auditory brainstem response
- abnormal blood vessel morphology
- abnormal cardiac outflow tract development
- abnormal cardiovascular development
- abnormal cardiovascular system morphology
- abnormal cervical atlas morphology
- abnormal cervical axis morphology
- abnormal cervical vertebrae morphology
- abnormal cochlea morphology
- abnormal cochlear ganglion morphology
- abnormal common crus morphology
- abnormal conotruncus morphology
- abnormal conotruncus septation
- abnormal cranial nerve morphology
- abnormal craniofacial bone morphology
- abnormal craniofacial development
- abnormal cranium morphology
- abnormal dorsal aorta morphology
- abnormal ear morphology
- abnormal ear shape
- abnormal endolymphatic duct morphology
- abnormal external auditory canal morphology
- abnormal facial morphology
- abnormal facial nerve morphology
- abnormal fetal atrioventricular canal morphology
- abnormal fourth pharyngeal arch artery morphology
- abnormal fourth pharyngeal arch morphology
- abnormal glossopharyngeal ganglion morphology
- abnormal glossopharyngeal nerve morphology
- abnormal heart development
- abnormal hyoid bone morphology
- abnormal hypoglossal cord morphology
- abnormal incus morphology
- abnormal inner ear morphology
- abnormal interventricular septum morphology
- abnormal laryngeal muscle morphology
- abnormal lateral semicircular canal morphology
- abnormal lymphangiogenesis
- abnormal lymphatic vessel morphology
- abnormal malleus morphology
- abnormal mandibular nerve branching
- abnormal middle ear morphology
- abnormal middle ear ossicle morphology
- abnormal motor capabilities/coordination/movement
- abnormal myogenesis
- abnormal neural crest cell migration
- abnormal neuron differentiation
- abnormal organ of Corti supporting cell differentiation
- abnormal organ of Corti supporting cell morphology
- abnormal otic capsule morphology
- abnormal outer ear morphology
- abnormal palatal shelf fusion at midline
- abnormal palate morphology
- abnormal pharyngeal arch artery morphology
- abnormal pharyngeal arch morphology
- abnormal pharyngeal muscle morphology
- abnormal pharyngeal pouch morphology
- abnormal posterior semicircular canal morphology
- abnormal response to novel object
- abnormal semicircular canal ampulla morphology
- abnormal semicircular canal morphology
- abnormal semilunar valve morphology
- abnormal sixth pharyngeal arch morphology
- abnormal social/conspecific interaction
- abnormal spatial working memory
- abnormal stapes morphology
- abnormal stria vascularis morphology
- abnormal strial marginal cell morphology
- abnormal temporal bone morphology
- abnormal third pharyngeal arch morphology
- abnormal thymus development
- abnormal thyroid cartilage morphology
- abnormal trigeminal nerve morphology
- abnormal truncus arteriosus septation
- abnormal tympanic ring morphology
- abnormal upper incisor morphology
- abnormal vagus ganglion morphology
- abnormal vagus nerve morphology
- abnormal vascular smooth muscle physiology
- abnormal vertebral arch morphology
- abnormal vestibulocochlear ganglion morphology
- abnormal vestibulocochlear nerve morphology
- abnormal zygomatic arch morphology
- absent arcus anterior
- absent cochlea
- absent facial muscle
- absent fourth pharyngeal arch artery
- absent inner ear
- absent inner ear vestibule
- absent lateral semicircular canal
- absent mandibular coronoid process
- absent masseter muscle
- absent outer ear
- absent parathyroid glands
- absent pharyngeal arch arteries
- absent pharyngeal arches
- absent pterygoid muscle
- absent second pharyngeal arch
- absent semicircular canals
- absent sixth pharyngeal arch artery
- absent stapes
- absent strial marginal cells
- absent third pharyngeal arch
- absent third pharyngeal arch artery
- absent ultimobranchial body
- absent upper incisors
- absent vertebral body
- anotia
- athymia
- bidirectional circling
- cervical aortic arch
- circling
- cleft palate
- cleft secondary palate
- cochlear ganglion degeneration
- collapsed Reissner membrane
- curly tail
- deafness
- decreased embryo size
- decreased prepulse inhibition
- decreased tympanic ring size
- decreased vocalization
- dilated endolymphatic duct
- double aortic arch
- double outlet right ventricle
- ear lobe hypoplasia
- edema
- fourth pharyngeal arch artery hypoplasia
- fourth pharyngeal arch hypoplasia
- fusion of basioccipital and basisphenoid bone
- fusion of glossopharyngeal and vagus nerve
- fusion of vertebral bodies
- glossopharyngeal nerve hypoplasia
- head bobbing
- head tilt
- hydrops fetalis
- increased apoptosis
- increased or absent threshold for auditory brainstem response
- increased susceptibility to otitis media
- increased thigmotaxis
- inner ear hypoplasia
- interrupted aortic arch
- kinked tail
- kyphosis
- lowered ear position
- lymphangiectasis
- malleus hypoplasia
- micrognathia
- neonatal lethality complete penetrance
- neonatal lethality incomplete penetrance
- no abnormal phenotype detected
- organ of Corti degeneration
- otic vesicle hypoplasia
- palatal shelves fail to meet at midline
- perimembraneous ventricular septal defect
- persistent truncus arteriosis
- pharynx hypoplasia
- pharynx stenosis
- postnatal lethality
- respiratory failure
- retroesophageal right subclavian artery
- right aortic arch
- short mandible
- short neck
- skin edema
- small cricoid cartilage
- small ears
- small otic vesicle
- small pharyngeal arch
- small scala media
- small second pharyngeal arch
- small thymus
- small thyroid cartilage
- thin malleus neck
- thymus hypoplasia
- vascular smooth muscle hypoplasia
- ventricular septal defect
role in cell
- expression in
- proliferation
- signaling in
- apoptosis
- migration
- formation
- differentiation
- depletion
- transition
- specification
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Tbx1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of mesenchymal cell apoptotic process
- anterior/posterior pattern specification
- muscle cell fate commitment
- mesoderm development
- blood vessel morphogenesis
- tongue morphogenesis
- face morphogenesis
- sensory perception of sound
- heart morphogenesis
- enamel mineralization
- positive regulation of transcription, DNA-dependent
- lymph vessel development
- cell fate specification
- positive regulation of epithelial cell proliferation
- cochlea morphogenesis
- artery morphogenesis
- pattern specification process
- positive regulation of mesenchymal cell proliferation
- muscle organ morphogenesis
- pharyngeal system development
- epithelial cell differentiation
- aorta morphogenesis
- neural crest cell migration
- ear morphogenesis
- inner ear morphogenesis
- cell proliferation
- soft palate development
- coronary artery morphogenesis
- positive regulation of cell proliferation
- outflow tract morphogenesis
- outer ear morphogenesis
- middle ear morphogenesis
- odontogenesis of dentin-containing tooth
- positive regulation of transcription from RNA polymerase II promoter
- thymus development
- mesenchymal cell apoptotic process
- outflow tract septum morphogenesis
- heart development
- retinoic acid receptor signaling pathway
- blood vessel development
- angiogenesis
- negative regulation of cell differentiation
- somatic stem cell maintenance
- social behavior
- muscle tissue morphogenesis
- cellular response to fibroblast growth factor stimulus
- embryonic cranial skeleton morphogenesis
- vagus nerve morphogenesis
- positive regulation of MAPK cascade
- determination of left/right symmetry
- parathyroid gland development
- embryonic viscerocranium morphogenesis
- regulation of transcription from RNA polymerase II promoter
- muscle organ development
- thyroid gland development
- cellular response to retinoic acid
- semicircular canal morphogenesis
- positive regulation of protein phosphorylation
- regulation of organ morphogenesis
- positive regulation of tongue muscle cell differentiation
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- protein homodimerization activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity