Analysis Tools|
Allele Symbol Allele Name Allele ID |
Acvrl1tm2.1Spo targeted mutation 2.1, S Paul Oh MGI:4398901 |
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| Summary |
6 genotypes
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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
• 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
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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
• 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
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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 |
Internal bleeding and anemia, and hemorrhages in the lung and GI tract in tamoxifen treated Acvrl1tm2.1Spo/Acvrl1tm2.1Spo Gt(ROSA)26Sortm1(cre/ERT)Nat/Gt(ROSA)26Sor+ mice
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• adult mice administered with tamoxifen die 9-21 days after a single injection
• tamoxifen treated females show a shorter survival span than males
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• in tamoxifen treated mutants
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• 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
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• pulmonary arteries and veins are dilated
• high vascular permeability
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• 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
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• arteriovenous malformations in the GI tract of tamoxifen treated mutants are located in the Peyer's patches of small intestine and appendix
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• in tamoxifen treated mutants
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• in tamoxifen treated mutants
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• tamoxifen treated mutants show signs of hemorrhages in the lungs
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• arteriovenous malformations in the GI tract of tamoxifen treated mutants are located in the Peyer's patches of small intestine and appendix
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• tamoxifen treated mutants exhibit darkened feces indicative of the presence of blood
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• tamoxifen treated mutants exhibit reduced hematocrit
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• pulmonary arteries and veins are dilated
• high vascular permeability
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• tamoxifen treated mutants show signs of hemorrhages in the lungs
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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:154620 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• tamoxifen-treated mice show multiple arteriovenous (AV) shunts in the ear and skin wound areas
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• tamoxifen-treated mice exhibit arteriovenous malformations in gastrointestinal tract
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• tamoxifen-treated mice exhibit severe hemorrhages in the cecum
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• tamoxifen-treated mice show multiple arteriovenous (AV) shunts in the ear and skin wound areas
• vessels associated with AV shunts are tortuous, enlarged, and present characteristic loops
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• tamoxifen-treated mice exhibit arteriovenous malformations in gastrointestinal tract
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• tamoxifen-treated mice exhibit severe hemorrhages in the cecum
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• tamoxifen-treated mice show multiple arteriovenous (AV) shunts in the ear and skin wound areas
• vessels associated with AV shunts are tortuous, enlarged, and present characteristic loops
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• survival rate is about 2 weeks on average after first tamoxifen injection
• lethality is most likely associated with gastrointestinal hemorrhages
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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:227170 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Arteriovenous malformations in the brain, lung, and GI tract of Acvrl1tm2.1Spo/Acvrl1tm2.1Spo Tg(Acvrl1-cre)L1Spo/0 mice
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• some die by P5
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• blood vessels in the superficial layer of the GI tract appear to be dilated, disorganized and tortuous
• dilated, tortuous, irregular, and disorganized vessels in the small intestine
• mutant vessels show peculiar looping at the distal tip of blood vessels
• however, vascular abnormalities are not seen in the skin, heart, muscle, kidney, or large intestine
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• blood vessels in the superficial layer of the brain appear to be dilated, disorganized and tortuous
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• blood vessels in the superficial layer of the lung appear to be dilated, disorganized and tortuous
• abnormal looping vessels are seen in the lung
• dilated, irregular and disorganized vessels in the lungs with uneven and discontinuous smooth muscle layers
• highly permeable and leaky vessels in the lungs
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• looping vessels consist of numerous arteriovenous fistulas
• presence of arteriovenous shunts as indicated by the presence of dye in both the venous and arterial branches
• arterioventricular shunting and diminished perfusion to distal microvessels is seen with dye injection
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• lungs have numerous blood vessels with abnormal morphology and anterioventricular connections
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• hemorrhages in the brain, lung, and GI tract
• dilated and hemorrhagic vessels in various brain areas, including the hippocampus
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• dilated, convoluted, and tortuous vessels with signs of hemorrhage in the superficial layer of the lung
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• blood vessels in the superficial layer of the brain appear to be dilated, disorganized and tortuous
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• blood vessels in the superficial layer of the lung appear to be dilated, disorganized and tortuous
• abnormal looping vessels are seen in the lung
• dilated, irregular and disorganized vessels in the lungs with uneven and discontinuous smooth muscle layers
• highly permeable and leaky vessels in the lungs
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• dilated, convoluted, and tortuous vessels with signs of hemorrhage in the superficial layer of the lung
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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:154620 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• tamoxifen-treated mice do not develop 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 11/12/2024 MGI 6.24 |
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