Analysis Tools
hematopoietic system
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• severe microcytic anemia is found in adults, but homozygotes are not anemic until soon after birth
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• mutants accumulate only 50% of the normal amount of spectrin in their erythrocyte membrane skeleton, however normal levels of alpha spectrin synthesis and mRNA activity are seen
(J:7501)
• red cell ghosts and membrane skeletons are smaller and more spherical than normal, although intact Triton shells can be obtained and resemble red cell ghosts in size and shape
(J:42526)
• the spectrin content of red blood cell membranes is approximately half of normal, the amount of SLC4A1 that is associated with the membrane skeleton is much less than normal, more of it is in the dimeric rather than tetrameric form, and it has a greater fractional mobility
(J:42526)
• electron micrographs of spread membrane skeletons from red blood cells show fewer than normal ankyrin-containing globular structures but normal skeletons and Triton shells have normal mechanical stability
(J:42526)
• rotary shadowing shows increased heterogeneity of intramembrane particles in red blood cell membranes
(J:42526)
• scanning electron microscopy shows exovesiculation, stomatocytes, and cells resembling acanthocytes also with an overall reduction in size of erythrocytes
(J:111131)
• Percoll-stractan gradients show that the red cells are varied in both size and density
(J:111131)
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• within 24 hours of birth red blood cell counts are lower than normal and continue to decrease during the early neonatal period
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anisocytosis
(
J:111131
)
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• red blood cell protoporphyrin levels are about 10 times higher than in controls
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microcytosis
(
J:111131
)
spherocytosis
(
J:3122
)
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• total reticulocyte count is increased at embryonic day 18, considerably increased at 1 day of age and then decreases toward normal levels but remains elevated
(J:3122)
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• erythrocyte intracellular sodium levels are three times higher than normal, erythrocyte intracellular potassium levels are lower than normal, and ouabain induced cation flux rates in erythrocytes are approximately three times higher than normal
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homeostasis/metabolism
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• red blood cell protoporphyrin levels are about 10 times higher than in controls
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• embryonic and neonatal assessment shows iron deposits in the liver but not spleen or kidney, and at embryonic day 16 hemosiderin is found in small amounds in the liver, this is increased by embryonic day 18, and is increased dramatically after birth
• adult homozygotes have extensive dposition of hemosiderin in liver macrophages and kidney proximal convoluted tubules
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hemosiderosis
(
J:3122
)
immune system
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• homozygotes are resistant to the malarial parasites, Plasmodium chabaudi adami and Plasmodium berghei and do not develop parasitemia
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liver/biliary system
renal/urinary system
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| malaria | DOID:12365 | J:111131 | ||
