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Symbol
Name
ID 		Tbx1
T-box 1
MGI:98493
Phenotype annotations related to craniofacial
*Aspects of the system are reported to show a normal phenotype.
!Indicates phenotype varies with strain background.
Darker colors indicate more annotations
Human Phenotypes
Micrognathia
Retrognathia
Recurrent sinusitis
Microcephaly
Preauricular pit
Broad forehead
Short philtrum
Submucous cleft hard palate
Bifid uvula
Velopharyngeal insufficiency
Cleft palate
High palate
High, narrow palate
Open mouth
Delayed eruption of teeth
Abnormal dental enamel morphology
Pierre-Robin sequence
Drooling
Underdeveloped nasal alae
Bulbous nose
Blepharophimosis
Narrow palpebral fissure
Short palpebral fissure
Disease(s) Associated with TBX1
DiGeorge syndrome
hypoparathyroidism
tetralogy of Fallot
velocardiofacial syndrome

Mouse Phenotypes
craniofacial phenotype
abnormal pharyngeal arch artery morphology
abnormal fourth pharyngeal arch artery morphology
absent fourth pharyngeal arch artery
fourth pharyngeal arch artery hypoplasia
absent sixth pharyngeal arch artery
absent third pharyngeal arch artery
abnormal craniofacial bone morphology
abnormal cranium morphology
fusion of basioccipital and basisphenoid bone
abnormal temporal bone morphology
temporal bone hypoplasia
abnormal zygomatic arch morphology
absent zygomatic arch
abnormal hyoid bone morphology
hyoid bone hypoplasia
abnormal upper incisor morphology
absent upper incisors
absent mandibular coronoid process
short mandible
micrognathia
abnormal middle ear ossicle morphology
abnormal incus morphology
abnormal malleus morphology
thin malleus neck
malleus hypoplasia
abnormal stapes morphology
absent stapes
absent middle ear ossicles
abnormal craniofacial development
abnormal frontonasal prominence morphology
abnormal nasal placode morphology
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 pharyngeal arch morphology
abnormal fourth pharyngeal arch morphology
absent fourth pharyngeal arch
absent second pharyngeal arch
small second pharyngeal arch
second pharyngeal arch hypoplasia
abnormal sixth pharyngeal arch morphology
absent sixth pharyngeal arch
abnormal third pharyngeal arch morphology
absent third pharyngeal arch
absent pharyngeal arches
small pharyngeal arch
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
Availability Mouse Genotype
Tbx1m1H/Tbx1m1H
Tbx1m1Jlk/Tbx1m1Jlk
Tbx1tm1.1Dsr/Tbx1tm1.1Dsr
Tbx1tm1Bem/Tbx1tm1Bem
Tbx1tm1Bld/Tbx1tm1Bld ! !
Tbx1tm1Dsr/Tbx1tm1Dsr
Tbx1tm1Pa/Tbx1tm1Pa
Tbx1tm2.2Bem/Tbx1tm2.2Bem
Tbx1tm2Bem/Tbx1tm2Bem
Tbx1tm2Bld/Tbx1tm2Bld
Tbx1m1Jlk/Tbx1tm1Bld
Tbx1tm1Bem/Tbx1+
Tbx1tm1Bld/Tbx1+
Tbx1tm1Bld/Tbx1tm2Bld *
Tbx1tm1Bld/Tbx1tm5Bld
Tbx1tm1Bld/Tbx1tm7.1Bld
Tbx1tm1Bld/Tbx1tm8.1Bld
Tbx1tm1Pa/Tbx1+ !
Tbx1tm2.1Bem/Tbx1tm2.2Bem
Foxg1tm1(cre)Skm/Foxg1+  (conditional)
Gt(ROSA)26Sortm1(Tbx1/GFP)Bem/Gt(ROSA)26Sor+
Foxg1tm1(cre)Skm/Foxg1+  (conditional)
Mesp1tm2(cre)Ysa/Mesp1+
Tbx1tm1Bld/Tbx1tm3Bld  (conditional)		 *
Mesp1tm2(cre)Ysa/Mesp1+
Tbx1tm1Bld/Tbx1tm5Bld  (conditional)
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Tbx1tm1Bld/Tbx1tm3Bld  (conditional)		 *
Tbx1tm1Bld/Tbx1tm2.1Bem
Tfap2atm1(cre)Moon/Tfap2a+  (conditional)
Tbx1tm2.1Bem/Tbx1+
Tfap2atm1(cre)Moon/Tfap2a+  (conditional)
Tbx1tm2.1Bem/Tbx1tm2.2Bem
Tg(Pax2-cre)1Akg/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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Send questions and comments to User Support. 		last database update
04/30/2024
MGI 6.23 		The Jackson Laboratory