Phenotypes Associated with This Genotype

Genotype
MGI:5501108

• Allelic Composition: Eng^tm2.1Hma/Eng^tm2.1Hma
• Genetic Background: involves: 129P2/OlaHsd

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

cardiovascular system

cerebral arteriovenous malformation ( J:196810 )

• mice co-injected with a Cre recombinase and a VEGF expressing adenovirus exhibit malformed vessels and increased cerebrovascular density in the brain at the injection site resembling arteriovenous malformations

• however, mutants co-injected with a Cre recombinase and a VEGF expressing adenovirus exhibit a similar degree of angiogenesis as in wild-type mice injected with the VEGF adenovirus

• co-injection of a Cre recombinase and a VEGF expressing adenovirus induces less cerebrovascular dysplasia in mutants than in similarly injected Acvrl1^tm2.1Spo homozygotes, however gene deletion efficiency is lower in this mutant and when gene deletion efficiency is the same, then these mutants show more dysplastic vessels per gene copy than the Acvrl1 mutant

nervous system

cerebral arteriovenous malformation ( J:196810 )

• mice co-injected with a Cre recombinase and a VEGF expressing adenovirus exhibit malformed vessels and increased cerebrovascular density in the brain at the injection site resembling arteriovenous malformations

• however, mutants co-injected with a Cre recombinase and a VEGF expressing adenovirus exhibit a similar degree of angiogenesis as in wild-type mice injected with the VEGF adenovirus

• co-injection of a Cre recombinase and a VEGF expressing adenovirus induces less cerebrovascular dysplasia in mutants than in similarly injected Acvrl1^tm2.1Spo homozygotes, however gene deletion efficiency is lower in this mutant and when gene deletion efficiency is the same, then these mutants show more dysplastic vessels per gene copy than the Acvrl1 mutant

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
arteriovenous malformations of the brain		DOID:0060688	OMIM:108010	J:196810