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Symbol
Name
ID
Tbx1
T-box 1
MGI:98493
Phenotype annotations related to growth/size/body
!Indicates phenotype varies with strain background.
Darker colors indicate more annotations
Human Phenotypes
Splenomegaly
Femoral hernia
Inguinal hernia
Umbilical hernia
Short stature
Obesity
Disease(s) Associated with TBX1
DiGeorge syndrome
hypoparathyroidism
velocardiofacial syndrome

Mouse Phenotypes
abnormal upper incisor morphology
absent upper incisors
abnormal palate development
abnormal palatal mesenchymal cell proliferation
abnormal secondary palate development
abnormal palatal shelf fusion at midline
palatal shelves fail to meet at midline
abnormal palatal shelf size
decreased palatal shelf size
increased palatal shelf size
abnormal facial morphology
absent masseter muscle
absent pterygoid muscle
absent facial muscle
abnormal palate morphology
cleft secondary palate
cleft palate
abnormal outer ear morphology
ear lobe hypoplasia
lowered ear position
abnormal ear shape
abnormal external auditory canal morphology
absent outer ear
anotia
small ears
embryonic growth retardation
decreased embryo size
abnormal laryngeal muscle morphology
short neck
postnatal growth retardation
Availability Mouse Genotype
Tbx1em1(IMPC)Mbp/Tbx1em1(IMPC)Mbp
Tbx1m1H/Tbx1m1H
Tbx1m1Jlk/Tbx1m1Jlk
Tbx1tm1.1Dsr/Tbx1tm1.1Dsr
Tbx1tm1Bem/Tbx1tm1Bem
Tbx1tm1Bld/Tbx1tm1Bld ! !
Tbx1tm1Dsr/Tbx1tm1Dsr
Tbx1tm1Pa/Tbx1tm1Pa
Tbx1tm2.2Bem/Tbx1tm2.2Bem
Tbx1m1Jlk/Tbx1tm1Bld
Tbx1tm1Bld/Tbx1+
Tbx1tm1Bld/Tbx1tm5Bld
Tbx1tm2.1Bem/Tbx1tm2.2Bem
Foxg1tm1(cre)Skm/Foxg1+  (conditional)
Mesp1tm2(cre)Ysa/Mesp1+
Tbx1tm1Bld/Tbx1tm3Bld  (conditional)
Tbx1tm1Bld/Tbx1tm2.1Bem
Tfap2atm1(cre)Moon/Tfap2a+  (conditional)
Tbx1tm1Bld/Tbx1tm3Bld
Tg(Tek-cre)1Ywa/0  (conditional)

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)
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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory