Analysis Tools
mortality/aging
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• lethargic pups of homozygous dams die within 72 hours of birth
• however, maternal supplementation with ascorbate rescues lethality
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• mice of homozygous dams die due to retention or are stillborn
• however, maternal supplementation with ascorbate rescues lethality
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homeostasis/metabolism
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• mice exhibit reduced or undetectable accumulation of an ascorbate analog in the liver compared with wild-type mice
• female mice exhibit reduced ascorbate absorption in the heart, kidney, liver, and lung compared with wild-type mice
• male mice exhibit decreased ascorbate absorption in the kidney compared with wild-type mice
• mice exhibit decreased whole body ascorbate concentration with increased ascorbate excretion compared with wild-type mice
• however, intestinal accumulation of an ascorbate analog is normal
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• mice exhibit 16- to 18-fold and 6- to 7-fold (for females and males, respectively) increase in ascorbate clearance and fractional excretion compared with wild-type mice
• mice exhibit decreased whole body ascorbate concentration with increased ascorbate excretion compared with wild-type mice
• however, mice exhibit normal creatinine and insulin clearance
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• in female and male mice, urine ascorbate concentration is 3-fold more than in wild-type mice
• mice exhibit increased glucuronic acid urine concentration compared with wild-type mice indicating increased ascorbate biosynthesis
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• in female mice, plasma ascorbate concentration is 3-fold less than in wild-type mice while urine concentration is equivalently increased
• pregnant female mice exhibit a more than 2-fold increase in ascorbate concentration compared with wild-type mice
• in male mice, plasma ascorbate concentration is 2-fold less than in wild-type mice while urine concentration is increased 3-fold
• healthy pups exhibit increased body and plasma ascorbate levels compared with lethargic homozygotes
• female mice exhibit reduced ascorbate absorption in the heart, kidney, liver, and lung compared with wild-type mice
• male mice exhibit decreased ascorbate absorption in the kidney compared with wild-type mice
• mice exhibit decreased whole body ascorbate concentration with increased ascorbate excretion compared with wild-type mice
• mice exhibit increased glucuronic acid urine concentration compared with wild-type mice indicating increased ascorbate biosynthesis
• however, supplementation with ascorbate increases plasma concentration
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behavior/neurological
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• in mice that die after birth
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renal/urinary system
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• mice exhibit 16- to 18-fold and 6- to 7-fold (for females and males, respectively) increase in ascorbate clearance and fractional excretion compared with wild-type mice
• mice exhibit decreased whole body ascorbate concentration with increased ascorbate excretion compared with wild-type mice
• however, mice exhibit normal creatinine and insulin clearance
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• in female and male mice, urine ascorbate concentration is 3-fold more than in wild-type mice
• mice exhibit increased glucuronic acid urine concentration compared with wild-type mice indicating increased ascorbate biosynthesis
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• mice exhibit 16- to 18-fold and 6- to 7-fold (for females and males, respectively) increase in ascorbate clearance and fractional excretion compared with wild-type mice
• however, mice exhibit normal creatinine and insulin clearance
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digestive/alimentary system
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• mice exhibit reduced or undetectable accumulation of an ascorbate analog in the liver compared with wild-type mice
• female mice exhibit reduced ascorbate absorption in the heart, kidney, liver, and lung compared with wild-type mice
• male mice exhibit decreased ascorbate absorption in the kidney compared with wild-type mice
• mice exhibit decreased whole body ascorbate concentration with increased ascorbate excretion compared with wild-type mice
• however, intestinal accumulation of an ascorbate analog is normal
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cellular
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• homozygous dams produce pups exhibit lethargy and lethality within 72 hours of birth whether pups are homozygous or heterozygous for the allele
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