Analysis Tools
cellular
homeostasis/metabolism
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Allele Symbol Allele Name Allele ID |
Abca1tm1Jdm targeted mutation 1, John D McNeish MGI:1935192 |
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| Summary |
11 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 |
Pulmonary lesions in Abca1tm1Jdm/Abca1tm1Jdm mice
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• incomplete penetrance
• at weaning, numbers of homozygotes recovered is reduced by about 50% from expected suggesting significant perinatal/postnatal lethality
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• numbers of homozygous offspring recovered at weaning is significantly reduced from expected
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• perivisceral
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• more cholesterol absorbed, relative to wild-type, on both chow and Western diets
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• of apoptotic cells
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• low apolipoprotein A-I level, 99.8% reduction relative to wild-type on chow diet and undetectable on Western-type diet
• low apolipoprotein B level, 70% reduction relative to wild-type on chow diet
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• more cholesterol absorbed, relative to wild-type, on both chow and Western diets
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• ~70% reduction to wild-type on chow diet
(J:61679)
• reduced relative to wild-type on Western-type diet
(J:61679)
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• 99.5% reduction relative to wild-type on chow diet
(J:61679)
• undetectable on Western-type diet
(J:61679)
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• 70% reduction relative to wild-type on chow diet
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• decreased levels of fat-soluble vitamins in plasma
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• of apoptotic cells
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• due to abnormal placental development
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• macroscopic and microscopic pale foci in 5-10% of parenchyma in mice 7 months or older, increasingly prevalent with age
• foci consisted of type II pneumocytes, lipid-laden macrophages, and cholesterol clefts
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• abnormal architecture; alveolar septae are focally expanded by mild type II pneumocyte hypertrophy, macrophages, and aggregates of lymphocytes and plasma cells
• lipid accumulation within alveolar cells
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• of apoptotic cells
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Tangier disease | DOID:1388 |
OMIM:205400 |
J:61679 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• numbers of homozygous offspring recovered at weaning is significantly reduced from expected
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• isolated peritoneal macrophages exposed to apoptotic thymocytes internalize similar numbers of cells (1-2 cells) as wild-type after 15-30 minutes, but this number does not increase with time as with wild-type which internalize 4-5 cells at 60-120 minutes
• after massive thymic involution induced by dexamethasone treatment, macrophages display reduced phagocytosis ability compared to wild-type, and similar to single-null mice
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• massive thymic involution induced by dexamethasone treatment results in significant decrease in thymic weight and cellularity compared to wild-type, and similar to single null mice
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• isolated peritoneal macrophages exposed to apoptotic thymocytes internalize similar numbers of cells (1-2 cells) as wild-type after 15-30 minutes, but this number does not increase with time as with wild-type which internalize 4-5 cells at 60-120 minutes
• after massive thymic involution induced by dexamethasone treatment, macrophages display reduced phagocytosis ability compared to wild-type, and similar to single-null mice
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• massive thymic involution induced by dexamethasone treatment results in significant decrease in thymic weight and cellularity compared to wild-type, and similar to single null mice
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| N |
• circulating triglyceride levels are normal in fasting mice
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• levels are reduced compared to adult wild-type or Tgm2-null mice
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• adult mice show nearly complete loss of HDL cholesterol in fasting mice
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• massive thymic involution induced by dexamethasone treatment results in significant decrease in thymic weight and cellularity compared to wild-type, and similar to single null mice
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• isolated peritoneal macrophages exposed to apoptotic thymocytes internalize similar numbers of cells (1-2 cells) as wild-type after 15-30 minutes, but this number does not increase with time as with wild-type which internalize 4-5 cells at 60-120 minutes
• after massive thymic involution induced by dexamethasone treatment, macrophages display reduced phagocytosis ability compared to wild-type, and similar to single-null mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• in culture, primary Sertoli cells isolated from 3-mo-old testes fail to show apoAI-dependent cholesterol efflux in the presence of LXR/RXR agonists, whereas wild-type cells show a 1.4-fold increase in apoAI-dependent cholesterol efflux
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• strong reduction of plasma beta-sitosterol and campesterol levels
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• intratesticular testosterone levels are significantly decreased by 6 months of age
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• lack of circulating HDL suggests that steroidogenesis is supported by de novo synthesis of cholesterol
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• mice have virtually no circulating HDL
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• cauda epididymal sperm count is significantly reduced by 6 months of age
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• males show age-dependent accumulation of lipids in the seminiferous tubules, whereas no lipid accumulations are observed in wild-type tubules up to 24 months of age
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• accumulation of lipid droplets is seen near the base of the seminiferous epithelium at 7 months of age
• when large lipid droplets are present, a thickened tubule wall is observed
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• abnormally large lipid droplets are present in the cytoplasm of Sertoli cells at 2 months of age, with significantly more extensive lipid deposition seen at 11- and 12 months of age
• when large lipid droplets are present, nuclear indentation may be observed
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• inability to efflux lipids from Sertoli cells leads to variable amounts of tubule vacuolization and degeneration seen at 11 and 12 months of age
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• at 2 months of age, Leydig cells are abnormally depleted of lipid droplets, show clumping of the smooth endoplasmic reticulum, and extensive invaginations of the nuclear membrane or increased chromatin condensation and margination
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• males show a 21% reduction in their ability to sire offspring relative to age-matched wild-type controls over their reproductive lifespans
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• cauda epididymal sperm count is significantly reduced by 6 months of age
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• in culture, primary Sertoli cells isolated from 3-mo-old testes fail to show apoAI-dependent cholesterol efflux in the presence of LXR/RXR agonists, whereas wild-type cells show a 1.4-fold increase in apoAI-dependent cholesterol efflux
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• males show age-dependent accumulation of lipids in the seminiferous tubules, whereas no lipid accumulations are observed in wild-type tubules up to 24 months of age
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• accumulation of lipid droplets is seen near the base of the seminiferous epithelium at 7 months of age
• when large lipid droplets are present, a thickened tubule wall is observed
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• abnormally large lipid droplets are present in the cytoplasm of Sertoli cells at 2 months of age, with significantly more extensive lipid deposition seen at 11- and 12 months of age
• when large lipid droplets are present, nuclear indentation may be observed
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• inability to efflux lipids from Sertoli cells leads to variable amounts of tubule vacuolization and degeneration seen at 11 and 12 months of age
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• at 2 months of age, Leydig cells are abnormally depleted of lipid droplets, show clumping of the smooth endoplasmic reticulum, and extensive invaginations of the nuclear membrane or increased chromatin condensation and margination
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• low apolipoprotein A-I level, reduced relative to wild-type on chow and Western-type diets
• low apolipoprotein B level, 20% reduction on chow diet
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• reduced relative to wild-type on chow and Western-type diets
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• 20% reduction on chow diet
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• microscopic, but not macroscopic, pale foci observed
• foci consisted of type II pneumocytes, lipid-laden macrophages, and cholesterol clefts
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit a decrease in heterogeneous distribution of bone tissue material properties compared with wild-type mice
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• increased 3-fold
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• from in vitro bone marrow cultures treated with G-CSF or IL3
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• from in vitro bone marrow cultures treated with G-CSF
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• from in vitro bone marrow cultures treated with IL3
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• hematopoietic stem and multipotential progenitor cell (HSPC) mobilization is enhanced that is bone marrow- and G-CSF-dependent driven by increased IL23/IL17
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• from in vitro bone marrow cultures treated with G-CSF or IL3
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• from in vitro bone marrow cultures treated with G-CSF
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• from in vitro bone marrow cultures treated with IL3
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in bone marrow transplants experiments, hematopoietic stem and multipotential progenitor cell (HSPC) exhibit reduced mobilization compared with Abca1tm1Jdm Abcg1tm1Dgen double homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice fed a high fat diet exhibit increased hematopoietic stem and multipotential progenitor cell (HSPC) mobilization compared with wild-type mice
• however, treatment with recombinant HDL suppresses this increase
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit increased secretion of TNF-alpha, IL-6, IL-1beta, and IL-12 compared to wild-type mice
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• mice exhibit increased secretion of MIP-1alpha, MIP-2, growth-regulated oncogene alpha and MCP-1 compared to wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• isolated peritoneal macrophages exposed to apoptotic thymocytes internalize similar numbers of cells (1-2 cells) as wild-type after 15-30 minutes, but this number does not increase with time as with wild-type which internalize 4-5 cells at 60-120 minutes
• after massive thymic involution induced by dexamethasone treatment, macrophages display reduced phagocytosis ability compared to wild-type, and similar to single-null mice
|
|
• massive thymic involution induced by dexamethasone treatment results in significant decrease in thymic weight and cellularity compared to wild-type, and similar to single null mice
|
|
• isolated peritoneal macrophages exposed to apoptotic thymocytes internalize similar numbers of cells (1-2 cells) as wild-type after 15-30 minutes, but this number does not increase with time as with wild-type which internalize 4-5 cells at 60-120 minutes
• after massive thymic involution induced by dexamethasone treatment, macrophages display reduced phagocytosis ability compared to wild-type, and similar to single-null mice
|
|
• massive thymic involution induced by dexamethasone treatment results in significant decrease in thymic weight and cellularity compared to wild-type, and similar to single null mice
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| N |
• circulating triglyceride levels are normal in fasting mice
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• levels are reduced compared to adult wild-type or Tgm2-null mice
|
|
• adult mice show nearly complete loss of HDL cholesterol in fasting mice
|
|
• massive thymic involution induced by dexamethasone treatment results in significant decrease in thymic weight and cellularity compared to wild-type, and similar to single null mice
|
|
• isolated peritoneal macrophages exposed to apoptotic thymocytes internalize similar numbers of cells (1-2 cells) as wild-type after 15-30 minutes, but this number does not increase with time as with wild-type which internalize 4-5 cells at 60-120 minutes
• after massive thymic involution induced by dexamethasone treatment, macrophages display reduced phagocytosis ability compared to wild-type, and similar to single-null mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• fewer than expected mice are present at weaning
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• mice exhibit more cerebral amyloid angiopathy-associated cerebral hemorrhage than Tg(Thy1-APP)3Somm mice
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• at 13 months, mice exhibit more cerebral amyloid angiopathy than in Tg(Thy1-APP)3Somm mice
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• mice exhibit more cerebral amyloid angiopathy-associated cerebral hemorrhage than Tg(Thy1-APP)3Somm mice
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• mice exhibit a 2-fold increase in insoluble beta-amyloid in the brain compared with Tg(Thy1-APP)3Somm mice
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• at 13 months, mice exhibit more cerebral amyloid angiopathy than in Tg(Thy1-APP)3Somm mice
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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 04/09/2024 MGI 6.23 |
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