Mouse Genome Informatics
cx
    Cbstm1Unc/Cbstm1Unc
Tg(CBS)11181Eri/0

involves: 129P2/OlaHsd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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

Mouse Models of Human Disease
OMIM IDRef(s)
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 236200 J:165612