Phenotypes Associated with This Genotype

Genotype
MGI:4398918

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

• ♀: 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