|
Symbol Name ID |
Acvrl1
activin A receptor, type II-like 1 MGI:1338946 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Gastrointestinal hemorrhage |
Hematemesis |
Hematochezia |
Melena |
Cerebral hemorrhage |
Subarachnoid hemorrhage |
Pulmonary hemorrhage |
Spontaneous hematomas |
Lip telangiectasia |
Oral cavity telangiectasia |
Palate telangiectasia |
Tongue telangiectasia |
Nasal mucosa telangiectasia |
Conjunctival telangiectasia |
Palmar telangiectasia |
Dilatation of celiac artery |
Dilatation of mesenteric artery |
Arteriovenous fistulas of celiac and mesenteric vessels |
Venous varicosities of celiac and mesenteric vessels |
Arteriovenous malformation |
Peripheral arteriovenous fistula |
Cerebral arteriovenous malformation |
Gastrointestinal arteriovenous malformation |
Hepatic arteriovenous malformation |
Pulmonary arteriovenous malformation |
Spinal arteriovenous malformation |
Abnormal cerebral vascular morphology |
Ischemic stroke |
Transient ischemic attack |
Gastrointestinal angiodysplasia |
Gastrointestinal telangiectasia |
Abnormal cardiovascular system physiology |
Hypertension |
Portal hypertension |
Pulmonary arterial hypertension |
Pulmonary embolism |
Right-to-left shunt |
Congestive heart failure |
High-output congestive heart failure |
Retinal telangiectasia |
Cavernous hemangioma |
Visceral angiomatosis |
Telangiectasia |
Mucosal telangiectasiae |
Nail bed telangiectasia |
Telangiectasia of the skin |
Facial telangiectasia |
Fingerpad telangiectases |
| Disease(s) Associated with ACVRL1 | ||||||||||||||||||||||||||||||||||||||||||||||||
| hereditary hemorrhagic telangiectasia |
| Mouse Phenotypes | cardiovascular system phenotype |
abnormal blood vessel morphology |
abnormal dorsal aorta morphology |
dilated dorsal aorta |
dilated pharyngeal arch artery |
poor arterial differentiation |
pulmonary arteriovenous malformation |
abnormal aorta morphology |
abnormal brain vasculature morphology |
cerebral arteriovenous malformation |
abnormal intersomitic vessel morphology |
dilated liver sinusoidal space |
abnormal lung vasculature morphology |
abnormal vascular development |
abnormal angiogenesis |
abnormal developmental vascular remodeling |
abnormal cardinal vein morphology |
abnormal anterior cardinal vein morphology |
abnormal vitelline vasculature morphology |
absent vitelline blood vessels |
abnormal vascular smooth muscle morphology |
vascular smooth muscle hypotrophy |
arteriovenous malformation |
gastrointestinal arteriovenous malformation |
dilated vasculature |
abnormal myocardium layer morphology |
abnormal trabecula carnea morphology |
absent atrioventricular cushions |
abnormal heart morphology |
abnormal heart layer morphology |
abnormal endocardium morphology |
enlarged heart |
heart hypoplasia |
enlarged pericardium |
pericardial effusion |
lung hemorrhage |
hemorrhage |
internal hemorrhage |
gastrointestinal hemorrhage |
large intestine hemorrhage |
abnormal circadian regulation of systemic arterial blood pressure |
hypertension |
increased vasodilation |
telangiectasia |
abnormal vascular wound healing |
|
| Availability | Mouse Genotype | |||||||||||||||||||||||||||||||||||||||||||||
| Acvrl1tm1Dgen/Acvrl1tm1Dgen | ||||||||||||||||||||||||||||||||||||||||||||||
| Acvrl1tm1Dyl/Acvrl1tm1Dyl | ||||||||||||||||||||||||||||||||||||||||||||||
| Acvrl1tm1Enl/Acvrl1tm1Enl | ||||||||||||||||||||||||||||||||||||||||||||||
| Acvrl1tm1Spo/Acvrl1tm1Spo | ||||||||||||||||||||||||||||||||||||||||||||||
| Acvrl1tm2.2Spo/Acvrl1tm2.2Spo | ||||||||||||||||||||||||||||||||||||||||||||||
| Acvrl1tm1Enl/Acvrl1+ | * | |||||||||||||||||||||||||||||||||||||||||||||
| Acvrl1tm1Spo/Acvrl1tm1Enl | ||||||||||||||||||||||||||||||||||||||||||||||
| Acvrl1tm2.1Spo/Acvrl1tm2.1Spo Tg(Acvrl1-cre)L1Spo/0 (conditional) |
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| Acvrl1tm2.1Spo/Acvrl1tm2.1Spo Gt(ROSA)26Sortm1(cre/ERT)Nat/Gt(ROSA)26Sor+ (conditional) |
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| Acvrl1tm2.1Spo/Acvrl1tm2.1Spo (conditional) | ||||||||||||||||||||||||||||||||||||||||||||||
| Acvrl1tm2.1Spo/Acvrl1tm2.1Spo Tg(Tal1-cre/ERT)1Jrg/0 (conditional) |
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| Acvrl1tm2.1Spo/Acvrl1tm2.1Spo Tg(Myh11-icre/ERT2)1Soff/0 (conditional) |
* | |||||||||||||||||||||||||||||||||||||||||||||
| Acvrl1tm2Spo/Acvrl1tm2Spo Tg(Acvrl1-cre)L1Spo/0 (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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