GENE VIEW

MOUSE GENE INFORMATION [PubMed]
Description T-box 1
Synonyms
Chromosome 16
Genetic Map Distance 11.51 cM
RefSeq Accessions NM_011532; NP_035662
NCBI Entrez Gene 21380 at chr16:18581806-18587062 (mm9) / chr16:18581704-18590671 (mm10)
Ensembl Gene ENSMUSG00000009097
VEGA Gene
MGI Gene MGI:98493
Mouse Protein (2)
UniProt ID Description Length (AA) Predicted # TMs
P70323 T-box transcription factor TBX1 479 0
B9EII4 T-box 1 488 0
Pfam Domains T-box
Mouse alleles (18)
Allele Name Allele Type
Tbx1m1Jlk Spontaneous
Tbx1tm1(Fgf8)Vite Targeted (knock-in)
Tbx1tm1.1Bem Targeted (Floxed/Frt)
Tbx1tm1.1Dsr Targeted (knock-out)
Tbx1tm1.2Bem Targeted (knock-out)
Tbx1tm1Bem Targeted (Floxed/Frt)
Tbx1tm1Bld Targeted (Reporter)
Tbx1tm1Dsr Targeted (Floxed/Frt)
Tbx1tm1Pa Targeted (knock-out)
Tbx1tm1Rak Targeted (knock-out)
Tbx1tm2Bld Targeted (Floxed/Frt)
Tbx1tm3.1Bld Targeted (knock-out)
Tbx1tm3Bld Targeted (Floxed/Frt)
Tbx1tm4(cre/Esr1*)Bld Targeted (knock-in)
Tbx1tm5Bld Targeted (Floxed/Frt)
Tbx1tm6(cre)Bld Targeted (knock-in)
Tbx1tm7.1Bld Targeted (other)
Tbx1tm8.1Bld Targeted (other)
Human Homolog TBX1 (T-box 1)
Human synonyms CAFS; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCFS
Human cytoband 22q11.21
Known deafness gene No
Within mapped deafness loci No
Associated Human Disease in OMIM
Chicken homolog (0)
Gene Ontology
Biological Process (122) positive regulation of transcription; DNA-dependent; heart development; ear morphogenesis; heart development; embryonic cranial skeleton morphogenesis; heart development; muscle cell fate commitment; heart development; odontogenesis of dentin-containing tooth; heart development; epithelial cell differentiation; epithelial cell differentiation; thyroid gland development; thyroid gland development; regulation of transcription from RNA polymerase II promoter; thyroid gland development; mesoderm development; thyroid gland development; pattern specification process; positive regulation of epithelial cell proliferation; pattern specification process; positive regulation of epithelial cell proliferation; sensory perception of sound; inner ear morphogenesis; muscle organ development; inner ear morphogenesis; angiogenesis; inner ear morphogenesis; cell fate specification; middle ear morphogenesis; cell fate specification; anterior/posterior pattern specification; middle ear morphogenesis; lymph vessel development; middle ear morphogenesis; outer ear morphogenesis; inner ear morphogenesis; cell proliferation; odontogenesis of dentin-containing tooth; transcription; DNA-dependent; negative regulation of cell differentiation; sensory perception of sound; positive regulation of MAPKKK cascade; determination of left/right symmetry; retinoic acid receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; positive regulation of protein phosphorylation; muscle organ morphogenesis; positive regulation of cell proliferation; regulation of transcription; DNA-dependent; anterior/posterior pattern specification; regulation of transcription; DNA-dependent; positive regulation of epithelial cell proliferation; pattern specification process; positive regulation of epithelial cell proliferation; positive regulation of epithelial cell proliferation; blood vessel morphogenesis; blood vessel development; thymus development; blood vessel development; thymus development; blood vessel development; thymus development; patterning of blood vessels; positive regulation of transcription; DNA-dependent; heart development; positive regulation of transcription; DNA-dependent; heart development; positive regulation of transcription; DNA-dependent; heart development; positive regulation of transcription; DNA-dependent; heart development; otic vesicle morphogenesis; cellular response to fibroblast growth factor stimulus; negative regulation of mesenchymal cell apoptosis; artery morphogenesis; artery morphogenesis; tongue morphogenesis; pharyngeal system development; pharyngeal system development; pharyngeal system development; pharyngeal system development; cochlea morphogenesis; cochlea morphogenesis; heart morphogenesis; heart morphogenesis; heart morphogenesis; heart morphogenesis; neural crest cell migration; outflow tract septum morphogenesis; neural crest cell migration; positive regulation of mesenchymal cell proliferation; social behavior; aorta morphogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of tongue muscle cell differentiation; positive regulation of transcription from RNA polymerase II promoter; outflow tract morphogenesis; face morphogenesis; enamel mineralization; coronary artery morphogenesis; regulation of organ morphogenesis; coronary artery morphogenesis; artery morphogenesis; positive regulation of secondary heart field cardioblast proliferation; semicircular canal morphogenesis; blood vessel remodeling; vagus nerve morphogenesis; aorta morphogenesis; soft palate development; soft palate development; parathyroid gland development; parathyroid gland development; embryonic viscerocranium morphogenesis; embryonic viscerocranium morphogenesis; outflow tract morphogenesis; outflow tract morphogenesis; pharyngeal system development; mesenchymal cell apoptosis; muscle tissue morphogenesis; regulation of organ morphogenesis; regulation of organ morphogenesis
Cellular Component (4) nucleus; nucleus; nucleus; nucleus
Molecular Function (9) protein binding; protein binding; protein binding; sequence-specific DNA binding transcription factor activity; DNA binding; protein homodimerization activity; protein homodimerization activity; sequence-specific DNA binding; sequence-specific DNA binding
FACS-Sorted Hair Cells
Data | Chart
E16a
E16b
P0
P4
P7
P16
Utricle GFP+ cells
17
0
1
0
0
19
Cochlea GFP+ cells
0
3
1
0
0
NA
Utricle GFP- cells
20
1
4
0
0
15
Cochlea GFP- cells
4
5
4
58
48
NA
Analysis
Condition A
Mean A
Condition B
Mean B
Fold Change (B/A)
False Discovery Rate (FDR)
GFP-
14
GFP+
3
0.27
0.0881
Utricle
6
Cochlea
12
1.84
1
Embryonic
6
Postnatal
11
1.70
1
Adult Cochlear Inner and Outer Hair Cells
Probeset ID IHC (mean ± sd) OHC (mean ± sd) [OHC replicate] Fold Change (OHC/IHC) False Discovery Rate (FDR)
17328947 14.89 ± 1.26 16.58 ± 3.63 [13.36] 1.11 0.795
Otic Progenitor Cells
Data
Growth Factor
Replicate 1
Replicate 2
Replicate 3
Mean
bFGF
4
4
6
196
No bFGF
0
2
5
3
EGF
0
0
3
1
Analysis
Condition A
Mean A
Condition B
Mean B
Fold Change (B/A)
False Discovery Rate (FDR)
bFGF
196
No bFGF
3
0.02
1.71e-15
bFGF
196
EGF
1
0.01
1.94e-80
No bFGF
3
EGF
1
0.56
0.462
Chicken Stereocilium Proteomics
No chicken homolog has been identified for Tbx1.
Auditory and Vestibular Ganglion Neurons
Probe set ID: 1425779_a_at
Age E12 E13 E16 P0 P6 P15
Spiral ganglion
Replicate 1 397.14 303.54 89.89 745.84 1824.19 1486.28
Replicate 1 Call A A A P P P
Replicate 2 387.21 348.97 662.91 2073.82 1740.24 1490.9
Replicate 2 Call A A P P P P
Replicate 3 415.04 328.23 174.71 84.11 2488.69 962.07
Replicate 3 Call A P A A P M
Replicate 4 1323.16 79.75 2919.62 1476.6
Replicate 4 Call P A P P
Mean 399.8 326.91 562.67 745.88 2243.19 1353.96
Standard Deviation 14.1 22.74 566.4 938.99 561.65 261.33
Log2 Mean 8.64 8.35 8.42 8.32 11.1 10.38
Log2 Standard Deviation 0.05 0.1 1.77 2.34 0.36 0.31
 
Vestibular ganglion
Replicate 1 198.43 92.21 820.91 408.26 420.51 416.11
Replicate 1 Call A A M A A A
Replicate 2 192.7 64.74 369.68 325.44 869.34 286.55
Replicate 2 Call A A A A A A
Replicate 3 166.8 80.74 658.43 181.35 714.54 235.18
Replicate 3 Call A A M A A A
Mean 185.98 79.23 616.34 305.02 668.13 312.61
Standard Deviation 16.85 13.8 228.54 114.83 227.99 93.24
Log2 Mean 7.53 6.29 9.19 8.17 9.32 8.25
Log2 Standard Deviation 0.13 0.26 0.59 0.6 0.54 0.42