Analysis Tools
mortality/aging
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• homozygotes die at E7.5 to E8.5
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Allele Symbol Allele Name Allele ID |
Bap1em1Test endonuclease-mediated mutation 1, Joseph R Testa MGI:5638884 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• homozygotes die at E7.5 to E8.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• low incidence of colon carcinoma
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• moderate incidence of mammary carcinoma
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• high incidence of ovarian sex cord stromal tumors, mainly granulosa cell tumors
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• heterozygotes show a significantly higher incidence and accelerated onset of asbestos-induced malignant mesothelioma (MM), with abdominal swelling noted as early as 20 wks after the first asbestos injection versus 27 wks in wild-type controls
• ultimately, 90% of asbestos-exposed heterozygotes showed abdominal distention, with ~60% of these containing ascites; almost all showed liver anomalies, pancreatic fibrosis, intestinal adhesions, and thickenings of the peritoneum, mesentery, and diaphragm
• heterozygotes exhibited a median survival of 43 wks after initial asbestos exposure versus 55 wks in wild-type controls; 73% of deaths occurred due to peritoneal MM, relative to only 32% in wild-type controls
• although all asbestos-exposed heterozygotes died from MM and other asbestos-related disease by 57 wks, 20% of wild-type controls remained alive and asymptomatic at this time
• in heterozygotes, asbestos-induced MMs were significantly larger and more aggressive than those in wild-type controls, often invading the pancreas, liver, and/or intestinal smooth muscle; occasional metastasis to the lungs was observed
• Ki-67 staining revealed a higher proliferative index in heterozygous MMs relative to wild-type MMs
• in culture, MM cells derived from asbestos-exposed heterozygotes showed loss of expression of the wild-type Bap1 allele, consistent with loss of heterozygosity
• no spontaneous mesotheliomas were detected in untreated heterozygotes up to 87 wks of age
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• low incidence of spindle cell tumor of the skin
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• moderate incidence of lung carcinoma
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• 1 of 17 heterozygotes developed a spontaneous squamous cell carcinoma (SCC) of mammary origin at 18 months of age
• however, heterozygotes showed no abnormalities of the uvea, skin, mesothelial tissues, or other organs except for the single SCC
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• low incidence of malignant mesothelioma
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• low incidence of colon carcinoma
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• heterozygotes show a significantly higher incidence and accelerated onset of asbestos-induced malignant mesothelioma (MM), with abdominal swelling noted as early as 20 wks after the first asbestos injection versus 27 wks in wild-type controls
• ultimately, 90% of asbestos-exposed heterozygotes showed abdominal distention, with ~60% of these containing ascites; almost all showed liver anomalies, pancreatic fibrosis, intestinal adhesions, and thickenings of the peritoneum, mesentery, and diaphragm
• heterozygotes exhibited a median survival of 43 wks after initial asbestos exposure versus 55 wks in wild-type controls; 73% of deaths occurred due to peritoneal MM, relative to only 32% in wild-type controls
• although all asbestos-exposed heterozygotes died from MM and other asbestos-related disease by 57 wks, 20% of wild-type controls remained alive and asymptomatic at this time
• in heterozygotes, asbestos-induced MMs were significantly larger and more aggressive than those in wild-type controls, often invading the pancreas, liver, and/or intestinal smooth muscle; occasional metastasis to the lungs was observed
• Ki-67 staining revealed a higher proliferative index in heterozygous MMs relative to wild-type MMs
• in culture, MM cells derived from asbestos-exposed heterozygotes showed loss of expression of the wild-type Bap1 allele, consistent with loss of heterozygosity
• no spontaneous mesotheliomas were detected in untreated heterozygotes up to 87 wks of age
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• moderate incidence of mammary carcinoma
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• high incidence of ovarian sex cord stromal tumors, mainly granulosa cell tumors
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• moderate incidence of mammary carcinoma
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• low incidence of spindle cell tumor of the skin
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• increased susceptibility to asbestos-induced malignant mesothelioma formation may be facilitated, at least in part, by a Cdkn2a-independent mechanism involving epigenetic dysregulation of Rb1
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• malignant mesothelioma (MM) cells derived from heterozygotes exhibit decreased expression of Rb1 due to hypermethylation of the Rb1 promoter
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• high incidence of ovarian sex cord stromal tumors, mainly granulosa cell tumors
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| N |
• at 3 and 18 months of age, peripheral blood smears and complete blood counts were comparable to those in wild-type controls
• at 18 months of age, bone marrow smears showed no evidence of myelodysplastic syndrome (MDS) or other hematologic disease
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• moderate incidence of lung carcinoma
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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 04/23/2024 MGI 6.23 |
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