cellular
• abnormal cytoplasmic reduction of the neck of terminally differentiating spermatozoa leads to structural fragility
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• sperm have reduced motility
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hematopoietic system
• mice are hypochromic with mildy microcytic blood cells
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• mean erythrocyte number is increased in mice at both 4 and 12 weeks of age compared to controls
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• hemoglobin concentration of the blood is lower at both 4 and 12 weeks of age though iron levels in the liver and blood are normal
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• mean corpuscular volume is significantly decreased at both 4 and 12 weeks of age
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• mean corpuscular volume is significantly decreased at both 4 and 12 weeks of age
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• reticulocytes have decreased hemoglobin concentration
• the heme-iron to whole cell iron ratio is half that of wild-type mice though iron uptake by reticulocytes is normal
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• hypochromic microcytic anemia is transferable when mutant E15.5 fetal liver hematopoietic stem cells from E15.5 are transferred to an irradiated host
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homeostasis/metabolism
• there is a decrease in the zinc protoporphyrin IX to heme (ZnPP/H) ratio in erythrocytes with ZnPP/H being only two-thirds of that found in wild-type controls at 24 weeks of age
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reproductive system
• abnormal cytoplasmic reduction of the neck of terminally differentiating spermatozoa leads to structural fragility
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• sperm have reduced motility
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• males are infertile
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