Analysis Tools
homeostasis/metabolism
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• increase in brain glutamine levels
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• increase in serum glutamine levels
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(J:784)
• mice develop hyperammonemia
(J:2774)
• serum ammonia levels are increased by 58%
(J:23195)
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• mutants exhibit orotic aciduria that can be treated with various inhibitors such as N-(phosphonoacetyl)-L-aspartate and ornithine but mutants are insensitive to cycloheximide and acivicin
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• alterations of cerebral metabolites; increase in ammonia, glutamine, alpha-ketoglutarate levels, glucose, and lactate levels in the brain and a decrease in glutamate content, ATP, pyruvate, and coA-SH levels
(J:784)
• mitochondrial NADH/NAD+ ratios are lower than in controls while cytosolic NADH/NAD+ is higher in the brain and liver
(J:784)
• increase in ammonia, alpha-ketoglutarate, and lactate levels and decrease in ATP and pyruvate levels in the liver
(J:784)
• energy metabolism intermediates in both liver and brain are affected by hyperammonemia and sodium benzoate treatment can correct the energy metabolism abnormalities
(J:2774)
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(J:2774)
• monoamine oxidase-A activities are decreased by 23% and 16% in cerebellum and brainstem, respectively, while monoamine oxidase-B activities are increased by 22%, 20%, and 22% in cerebellum, brainstem, and cerebral cortex, respectively
(J:19848)
• choline acetyltransferase activity is reduced by 63% in cerebral cortex, 53% in thalamus, 36% in striatum, 35% in brainstem and 26% in hippocampus
(J:23195)
• acetylcholine esterase activity is reduced by 28% in the thalamus but not other regions
(J:23195)
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• hepatic ornithine transcarbamylase activity is less than 10% of controls
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nervous system
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• peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the brain
(J:21306)
• monoamine oxidase-A activities are decreased by 23% and 16% in cerebellum and brainstem, respectively, while monoamine oxidase-B activities are increased by 22%, 20%, and 22% in cerebellum, brainstem, and cerebral cortex, respectively
(J:19848)
• brain ammonia levels are increased by 77%
(J:23195)
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• a decrease in choline acetyltransferase-positive neurons is seen throughout the cerebral cortex, septal area, and diagonal band, indicating a loss of forebrain cholinergic neurons
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endocrine/exocrine glands
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• peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the testis
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liver/biliary system
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• peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the liver
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renal/urinary system
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• mutants exhibit orotic aciduria that can be treated with various inhibitors such as N-(phosphonoacetyl)-L-aspartate and ornithine but mutants are insensitive to cycloheximide and acivicin
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• peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the kidney
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reproductive system
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• peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the testis
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behavior/neurological
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• perform poorly in a passive avoidance test, with 6 of 11 mice failing to learn to avoid an electrified grid compared to 1 of 12 in the controls
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| ornithine carbamoyltransferase deficiency | DOID:9271 |
OMIM:311250 |
J:784 , J:19848 , J:23195 | |
