tbx1
has
7
expression phenotype(s)
Images
Sources
Experiment + Assay
Phenotypes
Human Diseases
Fig 5FGH
Griffin C et al. (2025)
Xtr Wt + sf3b4 CRISPR
NF35/36 (RNA-Seq)
Anatomical Phenotype
decreased cell migration in cranial neural crest
Expression Phenotype
decreased amount
tbx1
expression in whole organism
absent
eftud2
expression in whole organism
absent
mmp7
expression in whole organism
absent
phf5a
expression in whole organism
absent
sf3b3
expression in whole organism
decreased amount
adamts1
expression in whole organism
decreased amount
ednrb
expression in whole organism
decreased amount
sema4c
expression in whole organism
Fig. 4 C
Shah AM et al. (2020)
Xla Wt + six1
NF28-32 (in situ hybridization)
Expression Phenotype
decreased amount
tbx1.L
expression in otic vesicle
increased amount
tbx1.L
expression in otic vesicle
branchiootorenal syndrome
branchiootic syndrome
Fig. 4 C
Shah AM et al. (2020)
Xla Wt + six1
NF28-32 (in situ hybridization)
Expression Phenotype
decreased amount
tbx1.L
expression in otic vesicle
branchiootic syndrome
branchiootorenal syndrome
fig. 4 C
Shah AM et al. (2020)
Xla Wt + six1-R110W
NF28-32 (in situ hybridization)
Expression Phenotype
decreased amount
tbx1.L
expression in otic vesicle
increased amount
tbx1.L
expression in otic vesicle
branchiootorenal syndrome
branchiootic syndrome
Fig. 4 C
Shah AM et al. (2020)
Xla Wt + six1-V17E
NF28-32 (in situ hybridization)
Expression Phenotype
decreased amount
tbx1.L
expression in otic vesicle
branchiootic syndrome
branchiootorenal syndrome
Fig. 4 C, Fig. 5 F
Shah AM et al. (2020)
Xla Wt + six1-W122R
NF28-32 (in situ hybridization)
Expression Phenotype
decreased amount
tbx1.L
expression in otic vesicle
branchiootorenal syndrome
branchiootic syndrome
Fig. 4 C
Shah AM et al. (2020)
Xla Wt + Six1-Y129C
NF28-32 (in situ hybridization)
Expression Phenotype
decreased amount
tbx1.L
expression in otic vesicle
branchiootorenal syndrome
branchiootic syndrome