Analysis Tools|
Allele Symbol Allele Name Allele ID |
Vhltm1.1Lss targeted mutation 1.1, Laura S Schmidt MGI:2677579 |
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| Summary |
5 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 66% showed hepatic vascular lesions on a A/J genetic background
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| von Hippel-Lindau disease | DOID:14175 |
OMIM:193300 |
J:85513 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 88% showed hepatic hemangiomas by 18 months of age, on a BALB/c genetic background
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• 88% showed hepatic hemangiomas by 18 months of age, on a BALB/c genetic background
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| von Hippel-Lindau disease | DOID:14175 |
OMIM:193300 |
J:85513 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• observed in 18% of mice between 4 and 12 months of age, putatively due to sporadic LOH
• smaller than those observed in Vhlhtm1Lss/ Vhlhtm1.1Lss;Tg(ACTB-cre)1Tes mice
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• 2-fold reduction in sperm count relative to wild-type
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• observed in 18% of mice between 4 and 12 months of age, putatively due to sporadic LOH
• smaller than those observed in Vhlhtm1Lss/ Vhlhtm1.1Lss;Tg(ACTB-cre)1Tes mice
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• 2-fold reduction in sperm count relative to wild-type
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| von Hippel-Lindau disease | DOID:14175 |
OMIM:193300 |
J:85513 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• all embryos of pregnant females injected with 2 mg of tamoxifen at E10.5 to inactive Vhlh during mid-gestational stage, die between E14.5 and E15.5
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• embryos of pregnant females injected with tamoxifen at E10.5 are smaller than controls
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• treatment of pregnant females at E10.5 with tamoxifen results in abnormal vasculature and dilated blood vessels in the body of E14.7 embryos
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• dilated vessels are frequently seen after tamoxifen treatment
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• treatment of pregnant females at E10.5 with tamoxifen results in impaired blood circulation in the yolk sac of E14.7 embryos
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• treatment of pregnant females at E10.5 with tamoxifen results in hemorrhage in the dorsolateral region of embryos at E14.5
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• at 24 hrs after bilateral renal ischemia-reperfusion injury (IRI), tamoxifen-treated mice exhibit significantly fewer TUNEL+ cells in the proximal tubules relative to tamoxifen-treated control mice
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• treatment of pregnant females at E10.5 with tamoxifen results in impaired blood circulation in the yolk sac of E14.7 embryos
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• embryos of pregnant females injected with tamoxifen at E10.5 are smaller than controls
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• treatment of pregnant females at E10.5 with tamoxifen results in extensive embryo necrosis
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• when pregnant females are injected with tamoxifen at E10.5, frequently observe dilated blood vessels and spongiotriophoblast cells in the labyrinthine layer
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• dilated vessels are frequently seen after tamoxifen treatment
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• thickness of the labyrinthine layer is reduced when pregnant females are injected with tamoxifen at E10.5
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• treatment of pregnant females at E10.5 with tamoxifen results in focal necrosis in the liver or E14.5 embryos
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• at 24 hrs after bilateral renal ischemia-reperfusion injury (IRI), tamoxifen-treated mice exhibit significantly lower serum creatinine levels than tamoxifen-treated control mice (0.24 +/- 0.04 mg/dl versus 0.72 +/- 0.16 mg/dL, respectively)
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• at 24 hrs after bilateral renal IRI, tamoxifen-treated mice exhibit significantly lower serum BUN levels than tamoxifen-treated control mice (52.12 +/- 6.61 mg/dl versus 138.10 +/- 13.03 mg/dL, respectively)
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• at 24 hrs after bilateral renal IRI, tamoxifen-treated mice (0.36mg/g body weight injected i.p. one wk prior to IRI) exhibit better preservation of renal function and significantly lower tubular injury scores than tamoxifen-treated control mice (2.40 +/- 0.08 and 0.90 +/- 0.12, respectively), consistent with reduced proximal tubular injury, near absence of TUNEL+ cells, and milder tubular epithelial degeneration
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• at 24 hrs after bilateral renal ischemia-reperfusion injury (IRI), tamoxifen-treated mice exhibit significantly fewer TUNEL+ cells in the proximal tubules relative to tamoxifen-treated control mice
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• at 24 hrs after bilateral renal IRI, tamoxifen-treated mice (0.36mg/g body weight injected i.p. one wk prior to IRI) exhibit better preservation of renal function and significantly lower tubular injury scores than tamoxifen-treated control mice (2.40 +/- 0.08 and 0.90 +/- 0.12, respectively), consistent with reduced proximal tubular injury, near absence of TUNEL+ cells, and milder tubular epithelial degeneration
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice began to die after 3 months of age
• 50% mortalitiy exhibited by 7 months of age
• 90% mortalitiy by 1 year of age
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• 30-fold reduction in sperm count relative to wild-type
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• abnormal sperm maturation with multinucleated giant cells
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• enlarged blood vessels in the connective tissue surrounding the tubules
• tubule atrophy and collapse
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• all mice displayed grossly visible hemangiomas by 1 year of age
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• frequent angiectasis in the liver and with lesser penetrance in the kidneys
• increased vasculature of the pancreas
• no vascular lesions observed in the brain, ovary, or adrenal glands
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• limited new blood vessel formation in the liver
• angiogenesis observed the cardiac muscle of 8 of 10 mice examined
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• livers were irregularly shaped and had vascular lesions containing large, thin-walled vessels filled with blood
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• all mice displayed grossly visible hemangiomas by 1 year of age
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• enlarged blood vessels in the connective tissue surrounding the tubules
• tubule atrophy and collapse
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• 30-fold reduction in sperm count relative to wild-type
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• abnormal sperm maturation with multinucleated giant cells
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| von Hippel-Lindau disease | DOID:14175 |
OMIM:193300 |
J:85513 | |
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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