|
Symbol Name ID |
Tgfbr2
transforming growth factor, beta receptor II MGI:98729 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Gastrointestinal hemorrhage |
Atrial septal defect |
Cardiac diverticulum |
Bicuspid aortic valve |
Mitral annular calcification |
Mitral valve prolapse |
Tricuspid valve prolapse |
Bicuspid pulmonary valve |
Ascending aortic dissection |
Abdominal aortic aneurysm |
Aortic arch aneurysm |
Aortic root aneurysm |
Ascending tubular aorta aneurysm |
Descending thoracic aorta aneurysm |
Aortic dissection |
Descending aortic dissection |
Pulmonary artery dilatation |
Pulmonary artery aneurysm |
Dilatation of the ductus arteriosus |
Patent ductus arteriosus |
Carotid artery dilatation |
Dilatation of the cerebral artery |
Arterial tortuosity |
Generalized arterial tortuosity |
Dilatation of mesenteric artery |
Aortic regurgitation |
Mitral regurgitation |
Tricuspid regurgitation |
Congestive heart failure |
Lymphadenopathy |
Hepatosplenomegaly |
| Disease(s) Associated with TGFBR2 | |||||||||||||||||||||||||||||||
| Loeys-Dietz syndrome 2 | |||||||||||||||||||||||||||||||
| Lynch syndrome | |||||||||||||||||||||||||||||||
| Marfan syndrome | |||||||||||||||||||||||||||||||
| pancreatic cancer |
| Mouse Phenotypes | cardiovascular system phenotype |
abnormal dorsal aorta morphology |
abnormal fourth pharyngeal arch artery morphology |
abnormal aorta elastic fiber morphology |
increased aorta wall thickness |
abnormal aortic arch morphology |
abnormal aortic arch and aortic arch branch attachment |
retroesophageal right subclavian artery |
interrupted aortic arch, type b |
abnormal aorta bulb morphology |
dilated aorta bulb |
ascending aorta aneurysm |
aortic dissection |
abnormal coronary artery morphology |
abnormal retina vasculature morphology |
abnormal retina blood vessel morphology |
retina microaneurysm |
retina neovascularization |
abnormal pericyte morphology |
abnormal vitelline vasculature morphology |
absent vitelline blood vessels |
blood vessel congestion |
persistent truncus arteriosus |
abnormal heart morphology |
ventricular septal defect |
enlarged heart |
hemopericardium |
enlarged pericardium |
dilated cardiomyopathy |
hemothorax |
retina hemorrhage |
vitreous body hemorrhage |
decreased cardiac muscle contractility |
abnormal blood vessel physiology |
abnormal vasodilation |
congestive heart failure |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||||||||
| Tgfbr2tm1.1Karl/Tgfbr2tm1.1Karl | |||||||||||||||||||||||||||||||||||||
| Tgfbr2tm1Mmt/Tgfbr2tm1Mmt | |||||||||||||||||||||||||||||||||||||
| Tgfbr2em1(IMPC)Rbrc/Tgfbr2+ | |||||||||||||||||||||||||||||||||||||
| Tgfbr2tm1.1Hcd/Tgfbr2+ | |||||||||||||||||||||||||||||||||||||
| Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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| Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm Tg(Acvrl1-cre)L1Spo/0 (conditional) |
* | ||||||||||||||||||||||||||||||||||||
| Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm A1cfTg(Myh6-cre/Esr1*)1Jmk/A1cf+ (conditional) |
* | ||||||||||||||||||||||||||||||||||||
| Tg(CAG-cre/Esr1*)5Amc/0 Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm (conditional) |
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| Tgfbr2tm1Karl/Tgfbr2tm1Karl Tg(Tie1-cre)9Ref/0 (conditional) |
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| Tgfbr2tm1Karl/Tgfbr2tm1Karl H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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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 04/23/2024 MGI 6.23 |
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