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Allele Symbol Allele Name Allele ID |
Atg5tm1Nmz targeted mutation 1, Noboru Mizushima MGI:3612279 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• immunohistochemistry of lungs using anti-SPC antibody revealed normal maturation of lamellar bodies in type II pneumocytes at E17.5, with no significant differences in lamellar body size relative to heterozygous controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• cortical thymic epithelial cells have an altered MHC-II "ligandome" compared to controls as evidenced by reduced MHC-II levels but increased I-Ealpha58-62 - I-Ab complex
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• cortical thymic epithelial cells have an altered MHC-II "ligandome" compared to controls as evidenced by reduced MHC-II levels but increased I-Ealpha58-62 - I-Ab complex
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• cortical thymic epithelial cells have an altered MHC-II "ligandome" compared to controls as evidenced by reduced MHC-II levels but increased I-Ealpha58-62 - I-Ab complex
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
absence of otoconia (right) or the presence of giant and abnormally shaped otoconial crystals (middle) in the utricle of Atg4bGt(A029E06)Wrst/Atg4bGt(A029E06)Wrst mice
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• neonates have ubiquitin-positive inclusions in a subset of neurons in the pons, dorsal root ganglia, spinal cord, hypothalamus, midbrain and trigeminal ganglia
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• inclusions are found in the anterior lobe of the pituitary
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• neonates have ubiquitin-positive inclusions in a subset of neurons in the pons, dorsal root ganglia, spinal cord, hypothalamus, midbrain and trigeminal ganglia
• inclusions are time-dependent and are more limited in newborns than in adults
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• mice exhibit an accumulation of eosinophilic globular substance in the utricle unlike in wild-type mice
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• in some mice
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• in some mice
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• inclusions are found in the liver
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• neonates have ubiquitin-positive inclusions in hepatocytes
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• inclusions are found in the adrenal gland
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• inclusions are found in the anterior lobe of the pituitary
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• die within one day of delivery
• die earlier compared with controls under starvation conditions after caesarean delivery (12 hours vs. 21 hours in controls), but survival can be prolonged by forced milk feeding
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• autolysosomes (degrading autophagic vacuoles) absent
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• under fasting conditions, have lower amino acid levels in the heart, liver and brain 10 hours after, but not immediately after, caesarean delivery
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• under fasting conditions, have lower essential and branched-chain amino acid levels in plasma 10 hours after, but not immediately after, caesarean delivery
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• no milk in stomachs of neonates, suggesting a suckling defect
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• severe elevation of the ST segment becomes apparent 8 hours after caesarean delivery under fasting conditions, however see no abnormalities in the coronary arteries or the respiratory system, suggesting a shortage of respiratory substrates and not oxygen
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| N |
• organelle degradation occurs normally in erythroid cells
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| N |
• organelle degradation occurs normally in embryonic lens cells as the formation of the organelle free zone in the lens is normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• T cells have increased mitochondrial mass relative to wild-type
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• T cells are 10% larger than controls both before and after stimulation due to the accumulation of material from impairment in autophagy
• in the absence of growth factor stimulation (in vitro neglect assays) purified unstimulated T cells exhibit decreased survival due to impairment in autophagy
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• defect in proliferation following either antibody-mediated TCR cross-linking or allogeneic stimulation
• In vivo CD4+ T cell proliferation is decreased to 42% as compared to 68% in wild-type
• In vivo CD8+ T cell proliferation is decreased to 51% as compared to 61% in wild-type
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• T cells have increased ROS production relative to wild-type
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• T cells are 10% larger than controls both before and after stimulation due to the accumulation of material from impairment in autophagy
• in the absence of growth factor stimulation (in vitro neglect assays) purified unstimulated T cells exhibit decreased survival due to impairment in autophagy
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• T cells are 10% larger than controls both before and after stimulation
• T cells have increased mitochondrial mass relative to wild-type
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• loss of CD8 T cells is more pronounced than loss of CD4 T cells, resulting in an elevated CD4:CD8 ratio
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• absolute number of splenic T cells is reduced by 67% relative to controls
• B cell numbers are unchanged
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• decreased survival of purified unstimulated T cells during in vitro neglect assays (cultured without stimulation)
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• defect in proliferation following either antibody-mediated TCR cross-linking or allogeneic stimulation
• In vivo CD4+ T cell proliferation is decreased to 42% as compared to 68% in wild-type
• In vivo CD8+ T cell proliferation is decreased to 51% as compared to 61% in wild-type
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• T cells are 10% larger than controls both before and after stimulation
• T cells have increased mitochondrial mass relative to wild-type
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• loss of CD8 T cells is more pronounced than loss of CD4 T cells, resulting in an elevated CD4:CD8 ratio
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• absolute number of splenic T cells is reduced by 67% relative to controls
• B cell numbers are unchanged
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• decreased survival of purified unstimulated T cells during in vitro neglect assays (cultured without stimulation)
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• defect in proliferation following either antibody-mediated TCR cross-linking or allogeneic stimulation
• In vivo CD4+ T cell proliferation is decreased to 42% as compared to 68% in wild-type
• In vivo CD8+ T cell proliferation is decreased to 51% as compared to 61% in wild-type
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• E15.5 thymus cells fail to form autophagosomes as occurs in the wild-type fetal thymus
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• neonatal lethality occurs, caused in part by perinatal metabolic process
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• E15.5 thymus cells fail to form autophagosomes as occurs in the wild-type fetal thymus
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• E15.5 thymus cells fail to form autophagosomes as occurs in the wild-type fetal thymus
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• embryonic thymi transplanted under the renal capsule of athymic hosts develop and release CD4 + T cells that mount an autoimmune attack
• this autoimmune attack leads to patches of flaky skin, a massively enlarged colon, atrophy of the uterus, complete absence of fat pads and in many cases enlarged lymph nodes
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• E15.5 thymus cells fail to form autophagosomes as occurs in the wild-type fetal thymus
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• embryonic thymi transplanted under the renal capsule of athymic hosts develop and release CD4 + T cells that mount an autoimmune attack
• this autoimmune attack leads to patches of flaky skin, a massively enlarged colon, atrophy of the uterus, complete absence of fat pads and in many cases enlarged lymph nodes
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• E15.5 thymus cells fail to form autophagosomes as occurs in the wild-type fetal thymus
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• embryonic thymi transplanted under the renal capsule of athymic hosts develop and release CD4 + T cells that mount an autoimmune attack
• this autoimmune attack leads to patches of flaky skin, a massively enlarged colon, atrophy of the uterus, complete absence of fat pads and in many cases enlarged lymph nodes
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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 04/30/2024 MGI 6.23 |
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