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Phenotypes Associated with This Genotype
Genotype
MGI:5462543
Allelic
Composition
Cbstm1Unc/Cbstm1Unc
Tg(CBS)11181Eri/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cbstm1Unc mutation (2 available); any Cbs mutation (20 available)
Tg(CBS)11181Eri mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants exhibit decreased survival after 80 days of age, however more than 50% are alive at 1 year of age
• mutants exhibit decreased survival after 80 days of age, however more than 50% are alive at 1 year of age

homeostasis/metabolism
• 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
• 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
• plasma levels of total homocysteine are elevated 83-fold compared to controls
• mutants treated with betaine exhibit lowering of total homocysteine levels
• 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

liver/biliary system
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory