About   Help   FAQ
Symbol
Name
ID 		Tbx1
T-box 1
MGI:98493
Phenotype annotations related to cardiovascular system
*Aspects of the system are reported to show a normal phenotype.
!Indicates phenotype varies with strain background.
Darker colors indicate more annotations
Human Phenotypes
Atrial septal defect
Ventricular septal defect
Perimembranous ventricular septal defect
Atrioventricular canal defect
Tetralogy of Fallot
Double aortic arch
Right aortic arch with mirror image branching
Interrupted aortic arch
Pulmonary artery atresia
Pulmonary artery stenosis
Patent ductus arteriosus
Truncus arteriosus
Pulmonic stenosis
Arrhythmia
Abnormal thymus morphology
Hypoplasia of the thymus
Splenomegaly
Retinal vascular tortuosity
Disease(s) Associated with TBX1
DiGeorge syndrome
hypoparathyroidism
tetralogy of Fallot
velocardiofacial syndrome
ventricular septal defect

Mouse Phenotypes
cardiovascular system phenotype
abnormal cardiovascular system morphology
abnormal blood vessel morphology
abnormal artery development
abnormal dorsal aorta morphology
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 aortic arch morphology
aberrant origin of the right subclavian artery
retroesophageal right subclavian artery
cervical aortic arch
interrupted aortic arch
right aortic arch
double aortic arch
abnormal right subclavian artery morphology
vascular smooth muscle hypoplasia
abnormal cardiovascular development
abnormal cardiac outflow tract development
abnormal truncus arteriosus septation
persistent truncus arteriosus
abnormal heart development
abnormal fetal atrioventricular canal morphology
abnormal conotruncus morphology
abnormal conotruncus septation
double outlet right ventricle
abnormal interventricular septum morphology
perimembraneous ventricular septal defect
ventricular septal defect
increased vascular smooth muscle cell proliferation
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
Tbx1tm2Bld/Tbx1tm2Bld
Tbx1em1(IMPC)Mbp/Tbx1+
Tbx1m1Jlk/Tbx1tm1Bld
Tbx1tm1.1Dsr/Tbx1+
Tbx1tm1Bem/Tbx1+
Tbx1tm1Bld/Tbx1+
Tbx1tm1Bld/Tbx1tm2Bld
Tbx1tm1Bld/Tbx1tm5Bld
Tbx1tm1Bld/Tbx1tm6(cre)Bld
Tbx1tm1Dsr/Tbx1+
Tbx1tm1Pa/Tbx1+ !
Tbx1tm2Bld/Tbx1+
Tbx1tm4(cre/Esr1*)Bld/Tbx1+
Tbx1tm6(cre)Bld/Tbx1+
Gt(ROSA)26Sortm1(Tbx1/GFP)Bem/Gt(ROSA)26Sortm1(Tbx1/GFP)Bem
Tbx1tm6(cre)Bld/Tbx1+  (conditional)
Tbx1tm2.1Bem/Tbx1tm2.2Bem
Foxg1tm1(cre)Skm/Foxg1+  (conditional)
Gt(ROSA)26Sortm1(Tbx1/GFP)Bem/Gt(ROSA)26Sor+
Tbx1tm6(cre)Bld/Tbx1+  (conditional)		 *
Hoxa3tm1(cre)Moon/Hoxa3+
Tbx1tm3Bld/Tbx1tm1Bld  (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)
Tbx1tm1Bld/Tbx1tm3Bld
Tg(Tek-cre)1Ywa/0  (conditional)
Tbx1tm1Bld/Tbx1tm3Bld
Tg(Myh6-cre)2182Mds/0  (conditional)
Tbx1tm2.1Bem/Tbx1+
Tfap2atm1(cre)Moon/Tfap2a+  (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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory