Phenotypes Associated with This Genotype

Genotype
MGI:5431571

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

• ♀: 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