Phenotypes Associated with This Genotype

Genotype
MGI:5775294

• Allelic Composition: Eng^tm2.1Hma/Eng^tm2.1Hma; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

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

cardiovascular system

abnormal blood vessel morphology ( J:212952 )

• dilated and dysmorphic vessels in brains of 5 week old mice

arteriovenous malformation ( J:212952 )

• 90% of 5 week old mice exhibit arteriovenous malformations with greatly enlarged and tortuous vessels in the brain

• more than 80% of mice have one arteriovenous malformation lesion, while the remaining 20% have 2-3 lesions

• arteriovenous (A-V) shunting and hemorrhage are seen in some brain and spinal cord lesions

gastrointestinal arteriovenous malformation ( J:212952 )

• arteriovenous malformations are also seen in the spinal cord and intestine

hemorrhage ( J:212952 )

• hemorrhage is seen in some brain and spinal cord lesions

• macrophages and microhemorrhage are seen around dysplastic vessels in the brain

digestive/alimentary system

gastrointestinal arteriovenous malformation ( J:212952 )

• arteriovenous malformations are also seen in the spinal cord and intestine

mortality/aging

premature death ( J:212952 )

• more than 50% of mice before 6 weeks of age

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:212952