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Phenotypes Associated with This Genotype
Genotype
MGI:5501106
Allelic
Composition
Acvrl1tm2.1Spo/Acvrl1tm2.1Spo
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvrl1tm2.1Spo mutation (0 available); any Acvrl1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 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
• co-injection of a Cre recombinase and a VEGF expressing adenovirus induces more cerebrovascular dysplasia in mutants than in similarly injected Engtm2.1Hma homozygotes, however gene deletion efficiency is higher in this mutant and when gene deletion efficiency is the same in both mutants, then this mutant shows fewer dysplastic vessels per gene copy than the Eng mutant
• however, mice 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

nervous system
• 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
• co-injection of a Cre recombinase and a VEGF expressing adenovirus induces more cerebrovascular dysplasia in mutants than in similarly injected Engtm2.1Hma homozygotes, however gene deletion efficiency is higher in this mutant and when gene deletion efficiency is the same in both mutants, then this mutant shows fewer dysplastic vessels per gene copy than the Eng mutant
• however, mice 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

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/05/2024
MGI 6.24
The Jackson Laboratory