Symbol
Name
ID

Tgfbr1
transforming growth factor, beta receptor I
MGI:98728

Phenotype annotations related to cardiovascular system

*	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 valve prolapse

Bicuspid pulmonary valve

Ascending aortic dissection

Aortic root aneurysm

Descending thoracic aorta aneurysm

Pulmonary artery aneurysm

Dilatation of the ductus arteriosus

Patent ductus arteriosus

Dilatation of the cerebral artery

Arterial tortuosity

Disease(s) Associated with TGFBR1

Loeys-Dietz syndrome 1

Lynch syndrome

Mouse Phenotypes

cardiovascular system phenotype

abnormal blood vessel morphology

abnormal artery morphology

abnormal aorta elastic fiber morphology

increased aorta wall thickness

abnormal aortic arch morphology

abnormal aorta bulb morphology

dilated aorta bulb

ascending aorta aneurysm

aortic dissection

abnormal coronary artery morphology

abnormal kidney arterial blood vessel morphology

abnormal lung vasculature morphology

abnormal angiogenesis

abnormal vitelline vasculature morphology

absent vitelline blood vessels

abnormal vascular smooth muscle morphology

vascular smooth muscle hypertrophy

hemopericardium

pericardial effusion

dilated cardiomyopathy

hemothorax

decreased cardiac muscle contractility

abnormal blood vessel physiology

Availability

Mouse Genotype

Tgfbr1^tm1Karl/Tgfbr1^tm1Karl

Tgfbr1^tm1Mulm/Tgfbr1^tm1Mulm

Tgfbr1^tm1Spo/Tgfbr1^tm1Spo

Tgfbr1^tm1.1Hcd/Tgfbr1⁺

Tgfbr1^tm1.1Karl/Tgfbr1^tm1.1Karl
Tg(Tie1-cre)9Ref/0 (conditional)

Tgfbr1^tm1.1Karl/Tgfbr1^tm1.1Karl
Tg(Acvrl1-cre)L1Spo/0 (conditional)

Tgfbr1^tm1.1Karl/Tgfbr1^tm1.1Karl
A1cf^{Tg(Myh6-cre/Esr1*)1Jmk}/A1cf⁺ (conditional)

Gt(ROSA)26Sor^{tm1(Tgfbr1*)Crm}/Gt(ROSA)26Sor⁺
Tg(Col1a2-cre/ERT,-ALPP)7Cpd/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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