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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Tbx1
T-box 1
MGI:98493
99 phenotypes from multigenic genotypes
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Allelic Composition
Genetic Background		 Annotated Term Reference
Bmp2tm1Brd/Bmp2+
Tbx1tm1Pa/Tbx1+
involves: 129/Sv * C57BL/6 		abnormal pharyngeal arch artery morphology J:80764
Chd7Gt(XK403)Byg/Chd7+
Tbx1tm1Bld/Tbx1+
either: (involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6) or (involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * CD-1) 		abnormal ear development J:154590
abnormal subclavian artery morphology J:154590
absent fourth pharyngeal arch artery J:154590
ectopic thymus J:154590
interrupted aortic arch J:154590
Chd7Whi/Chd7+
Tbx1tm1Bld/Tbx1+
B6.Cg-Chd7Whi Tbx1tm1Bld 		abnormal lateral semicircular canal morphology J:154590
abnormal posterior semicircular canal morphology J:154590
absent lateral semicircular canal J:154590
Chrdtm1Emdr/Chrdtm1Emdr
Tbx1m1Jlk/Tbx1m1Jlk
129/Sv-Tbx1m1Jlk Chrdtm1Emdr 		abnormal outer ear morphology J:146769
athymia J:146769
cleft palate J:146769
persistent truncus arteriosus J:146769
short mandible J:146769
Eya1tm1Rilm/Eya1+
Tbx1tm1Bem/Tbx1+
involves: 129 * C57BL/6 * CD-1 * SJL 		abnormal cardiovascular development J:172023
Eya1tm1Rilm/Eya1tm1Rilm
Tbx1tm1Bem/Tbx1+
involves: 129 * C57BL/6 * CD-1 * SJL 		persistent truncus arteriosus J:172023
Fgf8tm1.3Mrt/Fgf8+
Tbx1tm4(cre/Esr1*)Bld/Tbx1+
involves: 129P2/OlaHsd * 129S7/SvEvBrd 		abnormal aortic arch morphology J:110620
Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Tbx1tm4(cre/Esr1*)Bld/Tbx1+
involves: 129P2/OlaHsd * 129S7/SvEvBrd 		abnormal aortic arch morphology J:110620
Fgf8tm1.4Mrt/Fgf8+
Tbx1tm1Bld/Tbx1+
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * ICR 		abnormal aortic arch development J:78686
abnormal aortic arch morphology J:78686
abnormal fourth pharyngeal arch artery morphology J:78686
cervical aortic arch J:78686
interrupted aortic arch, type b J:78686
right aortic arch J:78686
thymus hypoplasia J:78686
Fgf8tm1.4Mrt/Fgf8+
Tbx1tm4(cre/Esr1*)Bld/Tbx1+
involves: 129P2/OlaHsd * 129S7/SvEvBrd 		abnormal aortic arch morphology J:110620
Fgf15tm1Sms/Fgf15+
Tbx1tm1Bld/Tbx1+
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 		aberrant origin of the right subclavian artery J:97317
abnormal aortic arch development J:97317
interrupted aortic arch J:97317
muscular ventricular septal defect J:97317
perimembraneous ventricular septal defect J:97317
Gt(ROSA)26Sortm1(Tbx1/GFP)Bem/Gt(ROSA)26Sor+
Tbx1tm1Bld/Tbx1tm6(cre)Bld
involves: 129S7/SvEvBrd * C57BL/6 * SJL 		abnormal cochlea morphology J:204435
abnormal vestibular saccule morphology J:204435
double outlet right ventricle J:204435
normal hearing/vestibular/ear phenotype J:204435
ventricular septal defect J:204435
Gt(ROSA)26Sortm1(Tbx1/GFP)Bem/Gt(ROSA)26Sortm1(Tbx1/GFP)Bem
Tbx1tm1Bld/Tbx1tm6(cre)Bld
involves: 129S7/SvEvBrd * C57BL/6 * SJL 		double outlet right ventricle J:204435
persistent truncus arteriosus J:204435
ventricular septal defect J:204435
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Tbx1tm3.1Bld/Tbx1tm6(cre)Bld
involves: 129S4/SvJaeSor * 129S7/SvEvBrd 		abnormal lymphatic vessel morphology J:159824
Kat6atm1Avo/Kat6a+
Tbx1tm1Bld/Tbx1+
involves: 129 * 129S7/SvEvBrd * BALB/c * C57BL/6 		abnormal cardiovascular system morphology J:188772
abnormal craniofacial morphology J:188772
abnormal skeleton morphology J:188772
preweaning lethality, incomplete penetrance J:188772
Kat6atm1Avo/Kat6atm1Avo
Tg(RP23-35B9)33Avo/0
involves: 129 * BALB/c * FVB/N 		abnormal aortic arch morphology J:188772
abnormal palate morphology J:188772
normal cardiovascular system phenotype J:188772
Kat6atm2.2Avo/Kat6a+
Tbx1tm1Bld/Tbx1+
involves: 129S7/SvEvBrd * C57BL/6 		cleft palate J:188772
interrupted aortic arch, type b J:188772
retroesophageal right subclavian artery J:188772
small thymus J:188772
ventricular septal defect J:188772
Myf5tm2Tajb/Myf5+
Tbx1tm1Pa/Tbx1tm1Pa
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ 		abnormal pharyngeal muscle morphology J:150130
Myf5tm2Tajb/Myf5tm2Tajb
Tbx1tm1Pa/Tbx1tm1Pa
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ 		abnormal pharyngeal muscle morphology J:150130
Pitx2tm2Sac/Pitx2+
Tbx1tm1Bem/Tbx1+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL 		abnormal atrioventricular valve morphology J:107397
abnormal coronary vessel morphology J:107397
abnormal fetal atrioventricular canal morphology J:107397
abnormal heart and great vessel attachment J:107397
abnormal heart morphology J:107397
abnormal heart shape J:107397
abnormal heart ventricle morphology J:107397
anomalous pulmonary venous connection J:107397
atrial septal defect J:107397
common atrioventricular valve J:107397
cyanosis J:107397
double outlet right ventricle J:107397
neonatal lethality, complete penetrance J:107397
supravalvar pulmonary trunk stenosis J:107397
ventricular septal defect J:107397
Ripply3tm1Sjt/Ripply3+
Tbx1tm1Bem/Tbx1+
involves: 129/Sv * 129S1/Sv * C57BL/6J * SJL 		abnormal fourth pharyngeal arch morphology J:167713
small pharyngeal arch J:167713
Ripply3tm1Sjt/Ripply3tm1Sjt
Tbx1tm1Bem/Tbx1tm1Bem
involves: 129/Sv * 129S1/Sv * C57BL/6J * SJL 		abnormal cardiovascular system morphology J:167713
abnormal pharyngeal pouch morphology J:167713
Setd5tm1c(EUCOMM)Wtsi/Setd5+
Tbx1tm1Bld/Tbx1+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
involves: 129S7/SvEvBrd * C57BL/6 * FVB/N 		abnormal cardiac outflow tract development J:314464
abnormal right subclavian artery morphology J:314464
double outlet right ventricle J:314464
normal mortality/aging J:314464
overriding aortic valve J:314464
perimembraneous ventricular septal defect J:314464
Setd5tm1c(EUCOMM)Wtsi/Setd5tm1c(EUCOMM)Wtsi
Tbx1tm6(cre)Bld/Tbx1+
involves: C57BL/6N 		normal cardiovascular system phenotype J:314464
Six1tm1Mair/Six1tm1Mair
Tbx1tm1Bem/Tbx1tm1Bem
involves: 129 * C57BL/6 * CD-1 * SJL 		abnormal cardiovascular development J:172023
Slc12a2tm1.1Jheb/Slc12a2tm1.1Jheb
Tbx1tm6(cre)Bld/Tbx1+
Tg(Pax2-cre)1Akg/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal crista ampullaris morphology J:201156
abnormal inner ear morphology J:201156
circling J:201156
collapsed Reissner membrane J:201156
hyperactivity J:201156
utricular degeneration J:201156
vestibular saccular degeneration J:201156
Smad7Gt(YHC053)Byg/Smad7+
Tbx1tm1Bld/Tbx1+
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J 		abnormal artery development J:212881
abnormal fourth pharyngeal arch artery morphology J:212881
abnormal pharyngeal arch artery morphology J:212881
increased vascular smooth muscle cell proliferation J:212881
vascular smooth muscle hypoplasia J:212881
Smad7Gt(YHC053)Byg/Smad7+
Tbx1tm6(cre)Bld/Tbx1+
involves: 129P2/OlaHsd * C57BL/6J 		abnormal blood vessel morphology J:212881
Tbx1tm1(Fgf8)Vite/Tbx1+
involves: 129S7/SvEvBrd * C57BL/6 		abnormal aortic arch morphology J:110620
abnormal arcus anterior morphology J:110620
abnormal cervical atlas morphology J:110620
abnormal cervical axis morphology J:110620
abnormal cervical vertebrae morphology J:110620
abnormal vertebral arch morphology J:110620
absent vertebral body J:110620
cervical aortic arch J:110620
curly tail J:110620
fourth pharyngeal arch artery hypoplasia J:110620
fourth pharyngeal arch hypoplasia J:110620
fusion of vertebral bodies J:110620
interrupted aortic arch J:110620
kinked tail J:110620
kyphosis J:110620
postnatal lethality J:110620
retroesophageal right subclavian artery J:110620
Tbx1tm1(Fgf8)Vite/Dp(16Dgcr14-Ufd1l)217Bld
involves: 129S7/SvEvBrd 		abnormal skeleton morphology J:110620
Tbx1tm1(Fgf8)Vite/Tbx1tm1(Fgf8)Vite
involves: 129S7/SvEvBrd * C57BL/6 		abnormal interventricular septum morphology J:110620
abnormal pharyngeal arch morphology J:110620
abnormal semilunar valve morphology J:110620
double aortic arch J:110620
persistent truncus arteriosus J:110620
Tbx1tm1Bld/Del(16Es2el-Ufd1l)217Bld
involves: 129S5/SvEvBrd * 129S7/SvEvBrd * C57BL/6 		abnormal dorsal aorta morphology J:67409
abnormal second pharyngeal arch artery morphology J:67409
absent fourth pharyngeal arch J:67409
absent fourth pharyngeal arch artery J:67409
absent sixth pharyngeal arch J:67409
absent sixth pharyngeal arch artery J:67409
absent third pharyngeal arch J:67409
absent third pharyngeal arch artery J:67409
Tbx1tm1Bld/Del(16Es2el-Ufd1l)217Bld
involves: 129S7/SvEvBrd 		abnormal fourth pharyngeal arch artery morphology J:67409
abnormal sixth pharyngeal arch artery morphology J:67409
abnormal third pharyngeal arch artery morphology J:67409
small second pharyngeal arch J:67409
Tbx1tm1Bld/Tbx1tm1(Fgf8)Vite
involves: 129S7/SvEvBrd * C57BL/6 		abnormal interventricular septum morphology J:110620
abnormal pharyngeal arch morphology J:110620
abnormal semilunar valve morphology J:110620
absent pharyngeal arch arteries J:110620
double aortic arch J:110620
persistent truncus arteriosus J:110620
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
04/23/2024
MGI 6.23 		The Jackson Laboratory