Analysis Tools
homeostasis/metabolism
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• mutants show a 12% and 33% increase in total liver and mitochondrial protein content, respectively, compared to controls
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• orotic aciduria
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• mitochondrial specific activity of carbamoyl-phosphate synthetase (ammonia) and glutamate dehydrogenase is about 15% lower than in controls
• citrate synthase activity is increased in the liver but specific activity in mitochondria is similar to controls
• activities of beta-hydroxybutyrate dehydrogenase and cytochrome oxidase are 22% higher and 30% lower, respectively, in the liver
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• liver extracts from hemizygous males have 5-10% of normal ornithine transcarbamylase activity
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renal/urinary system
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• orotic aciduria
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cellular
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• coupled and uncoupled mitochodria synthesize citrulline at unexpectedly high rates in the presence of 10 mM ornithine and the substrates for carbamoyl phosphate synthesis, however these rates are somewhat lower than rates of normal mitochondria; this difference arises from a lower carbamoyl-phosphate synthetase activity
• at external ornithine concentrations of less than 2 mM, a smaller fraction of the carbamoyl phophate synthesized is converted into citrulline than in controls
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liver/biliary system
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• liver weight per unit body weight is about 20% greater than normal
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integument
sparse hair
(
J:26977
)
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wrinkled skin
(
J:26977
)
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growth/size/body
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• liver weight per unit body weight is about 20% greater than normal
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| ornithine carbamoyltransferase deficiency | DOID:9271 |
OMIM:311250 |
J:26977 | |
