Phenotypes Associated with This Genotype

Genotype
MGI:5431572

• Allelic Composition: Acvrl1^tm2.1Spo/Acvrl1^tm2.1Spo; Gt(ROSA)26Sor^{tm1(cre/ERT)Nat}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ

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

Internal bleeding and anemia, and hemorrhages in the lung and GI tract in tamoxifen treated Acvrl1^tm2.1Spo/Acvrl1^tm2.1Spo Gt(ROSA)26Sor^{tm1(cre/ERT)Nat}/Gt(ROSA)26Sor⁺ mice

mortality/aging

premature death ( J:154620 )

• adult mice administered with tamoxifen die 9-21 days after a single injection

• tamoxifen treated females show a shorter survival span than males

growth/size/body

enlarged heart ( J:154620 )

• in tamoxifen treated mutants

cachexia ( J:154620 )

• tamoxifen treated mutants show signs of illness such as slow movements, weight loss, pale paws, and low pO2 levels from 8-10 days after tamoxifen injection

cardiovascular system

abnormal lung vasculature morphology ( J:154620 )

• pulmonary arteries and veins are dilated

• high vascular permeability

arteriovenous malformation ( J:154620 )

• uterus shows signs of arteriovenous malformations in tamoxifen treated mutants

• mutants bearing excisional wounds on the dorsal skin and ear and treated with tamoxifen form arteriovenous shunts in the blood vessels near the wounds

gastrointestinal arteriovenous malformation ( J:154620 )

• arteriovenous malformations in the GI tract of tamoxifen treated mutants are located in the Peyer's patches of small intestine and appendix

enlarged heart ( J:154620 )

• in tamoxifen treated mutants

internal hemorrhage ( J:154620 )

• in tamoxifen treated mutants

lung hemorrhage ( J:154620 )

• tamoxifen treated mutants show signs of hemorrhages in the lungs

digestive/alimentary system

gastrointestinal arteriovenous malformation ( J:154620 )

• arteriovenous malformations in the GI tract of tamoxifen treated mutants are located in the Peyer's patches of small intestine and appendix

melena ( J:154620 )

• tamoxifen treated mutants exhibit darkened feces indicative of the presence of blood

hematopoietic system

anemia ( J:154620 )

• in tamoxifen treated mutants

decreased hematocrit ( J:154620 )

• tamoxifen treated mutants exhibit reduced hematocrit

respiratory system

abnormal lung vasculature morphology ( J:154620 )

• pulmonary arteries and veins are dilated

• high vascular permeability

lung hemorrhage ( J:154620 )

• tamoxifen treated mutants show signs of hemorrhages in the lungs

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