Analysis Tools
mortality/aging
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• homozygotes are obtained at a lower frequency than the expected Mendelian ratio, suggesting prenatal and perinatal lethality
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• ~35% of homozygotes die within 24 hrs after birth, with no significant increase in mortality thereafter
• the % of homozygotes is closer to the expected Mendelian ratio at 10 hrs after birth (22.4% vs 25%)
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• at 4 weeks, the % of homozygotes obtained is only 16.2%
(J:45062)
• born homozygotes appear healthy and show no significant increase in mortality or histological abnormalities under SPF conditions; however, a number of homozygotes become compromised and die under conventional conditions
(J:77003)
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craniofacial
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• downward tilted zygomatic arch; zygomatic arch deformation is limited to the zygoma and not involved with the zygomatic processes of the maxilla and/or the squamosal bone
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reproductive system
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• female homozygotes are infertile
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skeleton
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• downward tilted zygomatic arch; zygomatic arch deformation is limited to the zygoma and not involved with the zygomatic processes of the maxilla and/or the squamosal bone
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• shorter and thinner clavicles
• however, mice exhibit normal limb joints
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• narrow thoracic cage
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immune system
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• in vitro, LPS-stimulated mutant peritoneal macrophages and fibroblasts exhibit impaired G-CSF mRNA induction as well as reduced G-CSF biological activity
• in vitro, mutant activated peritoneal macrophages (but not neutrophils) exhibit suppressed production of superoxide and hydrogen peroxide relative to wild-type macrophages
• despite normal nitric oxide (NO) production, mutant peritoneal macrophages display severely impaired listericidal activity even when maximally activated in vitro with IFN-gamma plus LPS
• in vitro, mutant activated peritoneal macrophages exhibit extremely reduced tumoricidal and tumoristatic activity against P815 mastrocytoma target cells
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• during listeriosis, homozygotes fail to retain L. monocytogenes effectively within their phagosomes, even when maximally activated in vitro with IFN-gamma plus LPS, with 84% of bacteria abnormally localized in the cytoplasm instead of in vacuoles
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• macrophages stimulated with LPS, BLP, MALP-2, or CpG DNA produce more IL12p40 compared with similarly treated wild-type cells
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• despite normal TNF and IFN-gamma induction, homozygotes succumb to sublethal doses of Listeria monocytogenes, with a 100% mortality rate within 5 days of i.p. inoculation and focal accumulation of neutrophils and macrophages in the liver and spleen
• in addition, homozygotes are highly susceptible to sublethal doses of Salmonella typhimurium, with a 100% mortality rate within 6 days of i.p. injection and a similar focal accumulation of inflammatory cells in the liver and spleen
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adipose tissue
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• at 20 hrs after birth, newborn homozygotes exhibit a significantly reduced intracytoplasmic lipid content in intercapsular brown adipocytes
• in mutant BAT, the presence of only small lipid droplets suggests that adipocyte differentiation is blocked at the immature adipocyte stage
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cellular
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• in response to hormonal stimulants, mutant embryonic fibroblasts show a significant reduction in adipogenic differentiation and accumulation of lipid droplets relative to wild-type fibroblasts
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• during listeriosis, homozygotes fail to retain L. monocytogenes effectively within their phagosomes, even when maximally activated in vitro with IFN-gamma plus LPS, with 84% of bacteria abnormally localized in the cytoplasm instead of in vacuoles
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hematopoietic system
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• in vitro, LPS-stimulated mutant peritoneal macrophages and fibroblasts exhibit impaired G-CSF mRNA induction as well as reduced G-CSF biological activity
• in vitro, mutant activated peritoneal macrophages (but not neutrophils) exhibit suppressed production of superoxide and hydrogen peroxide relative to wild-type macrophages
• despite normal nitric oxide (NO) production, mutant peritoneal macrophages display severely impaired listericidal activity even when maximally activated in vitro with IFN-gamma plus LPS
• in vitro, mutant activated peritoneal macrophages exhibit extremely reduced tumoricidal and tumoristatic activity against P815 mastrocytoma target cells
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• during listeriosis, homozygotes fail to retain L. monocytogenes effectively within their phagosomes, even when maximally activated in vitro with IFN-gamma plus LPS, with 84% of bacteria abnormally localized in the cytoplasm instead of in vacuoles
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| osteochondrodysplasia | DOID:2256 | J:237461 | ||
