Phenotypes Associated with This Genotype

Genotype
MGI:5775199

• Allelic Composition: Acvrl1^tm2.1Spo/Acvrl1^tm2.1Spo; Tg(Tal1-cre/ERT)1Jrg/0
• Genetic Background: involves: 129 * C57BL/6

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

cardiovascular system

arteriovenous malformation ( J:227170 )

• tamoxifen-treated mice show multiple arteriovenous (AV) shunts in the ear and skin wound areas

gastrointestinal arteriovenous malformation ( J:227170 )

• tamoxifen-treated mice exhibit arteriovenous malformations in gastrointestinal tract

large intestine hemorrhage ( J:227170 )

• tamoxifen-treated mice exhibit severe hemorrhages in the cecum

abnormal vascular wound healing ( J:227170 )

• tamoxifen-treated mice show multiple arteriovenous (AV) shunts in the ear and skin wound areas

• vessels associated with AV shunts are tortuous, enlarged, and present characteristic loops

digestive/alimentary system

gastrointestinal arteriovenous malformation ( J:227170 )

• tamoxifen-treated mice exhibit arteriovenous malformations in gastrointestinal tract

large intestine hemorrhage ( J:227170 )

• tamoxifen-treated mice exhibit severe hemorrhages in the cecum

homeostasis/metabolism

abnormal vascular wound healing ( J:227170 )

• tamoxifen-treated mice show multiple arteriovenous (AV) shunts in the ear and skin wound areas

• vessels associated with AV shunts are tortuous, enlarged, and present characteristic loops

mortality/aging

moribund ( J:227170 )

• survival rate is about 2 weeks on average after first tamoxifen injection

• lethality is most likely associated with gastrointestinal hemorrhages

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:227170