Analysis Tools
normal phenotype
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• mice are viable and fertile with no obvious phenotype
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Allele Symbol Allele Name Allele ID |
Engtm2.1Hma targeted mutation 2.1, Helen M Arthur MGI:3712802 |
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| Summary |
8 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice are viable and fertile with no obvious phenotype
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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 Acvrl1tm2.1Spo 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
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• 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 Acvrl1tm2.1Spo 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
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| arteriovenous malformations of the brain | DOID:0060688 |
OMIM:108010 |
J:196810 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• tamoxifen treated mice do not develop arteriovenous malformations in response to AAV-VEGF injection into the basal ganglia at 8-10 weeks of age or around the ear tag wound
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice display signs of illness in 3-4 days after the first tamoxifen injection which includes slow movement
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• adults injected with tamoxifen for 3 days develop arteriovenous malformations in AAV-VEGF-induced brain angiogenic foci 8 weeks after induction, with lesions consisting of enlarged vessels
(J:212952)
• tamoxifen treated adults develop arteriovenous malformations around the ear-tag wound
(J:212952)
• areas of wounds in mid-dorsum and ear of tamoxifen-injected mice show the presence of arteriovenous (AV) shunts
(J:227170)
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• macrophages and microhemorrhage are seen around dysplastic vessels of AAV-VEGF injected, tamoxifen treated mice in the brain
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• tamoxifen treated adults develop arteriovenous malformations around the ear-tag wound
(J:212952)
• areas of wounds in mid-dorsum and ear of tamoxifen-injected mice show dilated and torturous vessels and the presence of arteriovenous (AV) shunts
(J:227170)
• however, blood vessels away from the wound have normal morphology
(J:227170)
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• mice display signs of illness in 3-4 days after the first tamoxifen injection which includes diarrhea
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• tamoxifen treated adults develop arteriovenous malformations around the ear-tag wound
(J:212952)
• areas of wounds in mid-dorsum and ear of tamoxifen-injected mice show dilated and torturous vessels and the presence of arteriovenous (AV) shunts
(J:227170)
• however, blood vessels away from the wound have normal morphology
(J:227170)
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• mice display signs of illness in 3-4 days after the first tamoxifen injection which includes dehydration
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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 , J:227170 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• tamoxifen-injected adults subjected to wounding exhibit multiple arteriovenous (AV) shunts in the punched area of both the ear and the back skin
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• tamoxifen-injected adults subjected to wounding exhibit tortuous and enlarged blood vessels and present multiple arteriovenous (AV) shunts in the punched area of both the ear and the back skin
• however, tamoxifen-treated mice do not exhibit signs of hemorrhages or arteriovenous malformations in internal organs and survive longer than a month
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• tamoxifen-injected adults subjected to wounding exhibit tortuous and enlarged blood vessels and present multiple arteriovenous (AV) shunts in the punched area of both the ear and the back skin
• however, tamoxifen-treated mice do not exhibit signs of hemorrhages or arteriovenous malformations in internal organs and survive longer than a month
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• dilated and dysmorphic vessels in brains of 5 week old mice
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• 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
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• arteriovenous malformations are also seen in the spinal cord and intestine
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• hemorrhage is seen in some brain and spinal cord lesions
• macrophages and microhemorrhage are seen around dysplastic vessels in the brain
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• arteriovenous malformations are also seen in the spinal cord and intestine
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• more than 50% of mice before 6 weeks of age
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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 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• tamoxifen treated adults do not exhibit arteriovenous (AV) shunts in any areas of the skin including the wound areas
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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 04/16/2024 MGI 6.23 |
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