Analysis Tools
mortality/aging
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• mutants exhibit decreased survival after 80 days of age, however more than 50% are alive at 1 year of age
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• mutants exhibit decreased survival after 80 days of age, however more than 50% are alive at 1 year of age
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homeostasis/metabolism
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• plasma levels of S-adenosylmethionine (AdoMet), and S-adenosylhomocysteine (AdoHcy) are elevated 2.6-fold and 29-fold, respectively, compared to controls
• mutants treated with betaine exhibit lowering of AdoHcy, AdoMet, and cystathionine and increased levels of plasma methionine, dimethylglycine, methylglycine, and cysteine
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• plasma levels of methionine are elevated 2-fold and levels of cystathionine are elevated 4-fold compared to controls
• plasma cysteine levels are decreased about 5-fold compared to controls
• mutants treated with betaine exhibit increased levels of plasma methionine, dimethylglycine, methylglycine, and cysteine and lower cystathionine levels
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• plasma levels of total homocysteine are elevated 83-fold compared to controls
• mutants treated with betaine exhibit lowering of total homocysteine levels
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• analysis of tail bleeding times indicate that mutants clot about 3-fold faster than controls, indicating hypercoagulation
• treatment with betaine increases clotting time in mutants
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• tail bleeding times indicate that mice are in a hypercoagulative state
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liver/biliary system
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• mutants exhibit signs of mild hepatopathy such as nuclear anisokoria and signs of hyperregeneration
• however no hepatic steatosis or fibrosis are seen and livers are normal in size and coloration
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| homocystinuria | DOID:9263 |
OMIM:236200 OMIM:236250 |
J:165612 | |
