All Phenotypes Tg(Acvrl1-cre)L1Spo MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Acvrl1^tm2Spo/Acvrl1^tm2Spo Tg(Acvrl1-cre)L1Spo/0	involves: 129 * 129S4/SvJae * C57BL/6 * FVB/N	MGI:4398918
cn2	Tgfbr1^tm1.1Karl/Tgfbr1^tm1.1Karl Tg(Acvrl1-cre)L1Spo/0	involves: 129 * FVB	MGI:4398919
cn3	Acvrl1^tm2.1Spo/Acvrl1^tm2.1Spo Tg(Acvrl1-cre)L1Spo/0	involves: 129 * FVB	MGI:5431571
cn4	Bmpr2^tm1.1Enl/Bmpr2^tm1.1Enl Tg(Acvrl1-cre)L1Spo/0	involves: 129S4/SvJae * FVB	MGI:5430750
cn5	Tgfbr2^tm1.2Hlm/Tgfbr2^tm1.2Hlm Tg(Acvrl1-cre)L1Spo/0	involves: 129S6/SvEvTac * FVB/N	MGI:4398920

Allelic Composition	Acvrl1^tm2Spo/Acvrl1^tm2Spo Tg(Acvrl1-cre)L1Spo/0
Genetic Background	involves: 129 * 129S4/SvJae * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvrl1^tm2Spo mutation (0 available); any Acvrl1 mutation (27 available)
Tg(Acvrl1-cre)L1Spo mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:130020 )

• mice die at E18.5

cardiovascular system

abnormal dorsal aorta morphology ( J:130020 )

• the vascular smooth muscle cell layers of the dorsal aorta are more compact than in wild-type mice

abnormal lung vasculature morphology ( J:130020 )

• lung vasculature are dilated, tortuous, and irregular unlike in wild-type mice

• lung blood vessels exhibit thinning and irregular vascular smooth muscle cell layers compared to in wild-type mice

abnormal vitelline vasculature morphology ( J:130020 )

• from E15.5 to E17.5, yolk sac blood vessels bulge and are larger than the umbilical vessels unlike in wild-type mice

• extraembryonic vessels exhibit increased lumen diameter and decreased wall thickness compared to in wild-type vessels

• vitelline vessels are dilated, convoluted, tortuous, and also make abnormal direct connections between arteries and veins without connecting capillary beds unlike wild-type vessels

vascular smooth muscle hypotrophy ( J:130020 )

• the vascular smooth muscle cell layers of the pulmonary vessels, vitelline vessels, and the dorsal aorta are more compact than in wild-type mice

arteriovenous malformation ( J:130020 )

• vitelline vessels are dilated, convoluted, tortuous, and also make abnormal direct connections between arteries and veins without connecting capillary beds unlike wild-type vessels

dilated vasculature ( J:130020 )

• pulmonary and vitelline vessels

embryo

abnormal vitelline vasculature morphology ( J:130020 )

• from E15.5 to E17.5, yolk sac blood vessels bulge and are larger than the umbilical vessels unlike in wild-type mice

• extraembryonic vessels exhibit increased lumen diameter and decreased wall thickness compared to in wild-type vessels

• vitelline vessels are dilated, convoluted, tortuous, and also make abnormal direct connections between arteries and veins without connecting capillary beds unlike wild-type vessels

respiratory system

abnormal lung vasculature morphology ( J:130020 )

• lung vasculature are dilated, tortuous, and irregular unlike in wild-type mice

• lung blood vessels exhibit thinning and irregular vascular smooth muscle cell layers compared to in wild-type mice

muscle

vascular smooth muscle hypotrophy ( J:130020 )

• the vascular smooth muscle cell layers of the pulmonary vessels, vitelline vessels, and the dorsal aorta are more compact than in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary hemorrhagic telangiectasia		DOID:1270	OMIM:187300 OMIM:600376 OMIM:601101 OMIM:615506	J:130020

Allelic Composition	Tgfbr1^tm1.1Karl/Tgfbr1^tm1.1Karl Tg(Acvrl1-cre)L1Spo/0
Genetic Background	involves: 129 * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Acvrl1-cre)L1Spo mutation (0 available)
Tgfbr1^tm1.1Karl mutation (1 available); any Tgfbr1 mutation (36 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

normal phenotype

no abnormal phenotype detected ( J:130020 )

• mice are viable and exhibit normal vasculature

cardiovascular system

cardiovascular system phenotype ( J:130020 )

N	• mice exhibit normal vasculature

Allelic Composition	Acvrl1^tm2.1Spo/Acvrl1^tm2.1Spo Tg(Acvrl1-cre)L1Spo/0
Genetic Background	involves: 129 * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvrl1^tm2.1Spo mutation (0 available); any Acvrl1 mutation (27 available)
Tg(Acvrl1-cre)L1Spo mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Arteriovenous malformations in the brain, lung, and GI tract of Acvrl1^tm2.1Spo/Acvrl1^tm2.1Spo Tg(Acvrl1-cre)L1Spo/0 mice

mortality/aging

postnatal lethality ( J:154620 )

• some die by P5

cardiovascular system

abnormal blood vessel morphology ( J:154620 )

• blood vessels in the superficial layer of the GI tract appear to be dilated, disorganized and tortuous

• dilated, tortuous, irregular, and disorganized vessels in the small intestine

• mutant vessels show peculiar looping at the distal tip of blood vessels

• however, vascular abnormalities are not seen in the skin, heart, muscle, kidney, or large intestine

abnormal brain vasculature morphology ( J:154620 )

• blood vessels in the superficial layer of the brain appear to be dilated, disorganized and tortuous

abnormal lung vasculature morphology ( J:154620 )

• blood vessels in the superficial layer of the lung appear to be dilated, disorganized and tortuous

• abnormal looping vessels are seen in the lung

• dilated, irregular and disorganized vessels in the lungs with uneven and discontinuous smooth muscle layers

• highly permeable and leaky vessels in the lungs

arteriovenous malformation ( J:154620 )

• looping vessels consist of numerous arteriovenous fistulas

• presence of arteriovenous shunts as indicated by the presence of dye in both the venous and arterial branches

• arterioventricular shunting and diminished perfusion to distal microvessels is seen with dye injection

pulmonary arteriovenous malformation ( J:154620 )

• lungs have numerous blood vessels with abnormal morphology and anterioventricular connections

hemorrhage ( J:154620 )

• hemorrhages in the brain, lung, and GI tract

• dilated and hemorrhagic vessels in various brain areas, including the hippocampus

lung hemorrhage ( J:154620 )

• dilated, convoluted, and tortuous vessels with signs of hemorrhage in the superficial layer of the lung

gastrointestinal hemorrhage ( J:154620 )

digestive/alimentary system

gastrointestinal hemorrhage ( J:154620 )

nervous system

abnormal brain vasculature morphology ( J:154620 )

• blood vessels in the superficial layer of the brain appear to be dilated, disorganized and tortuous

respiratory system

abnormal lung vasculature morphology ( J:154620 )

• blood vessels in the superficial layer of the lung appear to be dilated, disorganized and tortuous

• abnormal looping vessels are seen in the lung

• dilated, irregular and disorganized vessels in the lungs with uneven and discontinuous smooth muscle layers

• highly permeable and leaky vessels in the lungs

lung hemorrhage ( J:154620 )

• dilated, convoluted, and tortuous vessels with signs of hemorrhage in the superficial layer of the lung

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary hemorrhagic telangiectasia		DOID:1270	OMIM:187300 OMIM:600376 OMIM:601101 OMIM:615506	J:154620

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

abnormal pulmonary artery morphology ( J:158116 )

• mutants with pulmonary hypertension exhibit an increased number of alpha-smooth muscle actin-positive (alphaSMA+) distal pulmonary arteries

• mutants with pulmonary hypertension exhibit an increase in medial wall thickness of alphaSMA+ small pulmonary arteries

artery occlusion ( J:158116 )

• mutants exhibit a thickening of alphaSMA+ cell layers in small arteries of the pulmonary hypertension lungs and some arteries appear occluded, resembling the concentric vascular lesions in human pulmonary arterial hypertension

abnormal lung vasculature morphology ( J:158116 )

• 50% of mutant lungs show focal leukocyte infiltrations surrounding pulmonary vessels that are not seen in controls; infiltration is more frequent in mice with pulmonary hypertension than in mutants with lower right ventricular systolic pressure

• most of the infiltrating cells are CD68+ monocyte/macrophages

heart right ventricle hypertrophy ( J:158116 )

• ratio of right ventricle to left ventricle plus septum is higher in mutants with pulmonary hypertension than in controls, indicating right ventricle hypertrophy

increased pulmonary artery pressure ( J:158116 )

• mutants exhibit a higher right ventricular systolic pressure than controls

pulmonary hypertension ( J:158116 )

• some mutants develop pulmonary hypertension (ventricular systolic pressure > 30 mm Hg)

increased vascular smooth muscle cell proliferation ( J:158116 )

• smooth muscle cells in distal pulmonary arteries exhibit increased proliferation index

growth/size/body

heart right ventricle hypertrophy ( J:158116 )

• ratio of right ventricle to left ventricle plus septum is higher in mutants with pulmonary hypertension than in controls, indicating right ventricle hypertrophy

cellular

increased vascular smooth muscle cell proliferation ( J:158116 )

• smooth muscle cells in distal pulmonary arteries exhibit increased proliferation index

increased lung endothelial cell proliferation ( J:158116 )

• endothelial cells in distal pulmonary arteries exhibit increased proliferation index

homeostasis/metabolism

abnormal lung thrombosis ( J:158116 )

• 53% of pulmonary hypertension lungs exhibit in situ thrombosis, with lumens of some affected vessels partially or completely occluded by fibrin(ogen)+ thrombi

muscle

heart right ventricle hypertrophy ( J:158116 )

• ratio of right ventricle to left ventricle plus septum is higher in mutants with pulmonary hypertension than in controls, indicating right ventricle hypertrophy

increased vascular smooth muscle cell proliferation ( J:158116 )

• smooth muscle cells in distal pulmonary arteries exhibit increased proliferation index

respiratory system

abnormal lung vasculature morphology ( J:158116 )

• most of the infiltrating cells are CD68+ monocyte/macrophages

increased lung endothelial cell proliferation ( J:158116 )

• endothelial cells in distal pulmonary arteries exhibit increased proliferation index

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary pulmonary hypertension		DOID:14557	OMIM:178600 OMIM:265400 OMIM:615342 OMIM:615343 OMIM:615344	J:158116

Allelic Composition	Tgfbr2^tm1.2Hlm/Tgfbr2^tm1.2Hlm Tg(Acvrl1-cre)L1Spo/0
Genetic Background	involves: 129S6/SvEvTac * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Acvrl1-cre)L1Spo mutation (0 available)
Tgfbr2^tm1.2Hlm mutation (0 available); any Tgfbr2 mutation (40 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

normal phenotype

no abnormal phenotype detected ( J:130020 )

• mice are viable and exhibit normal vasculature

cardiovascular system

cardiovascular system phenotype ( J:130020 )

N	• mice exhibit normal vasculature

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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