Mouse Genome Informatics
ht
    Cbstm1Unc/Cbs+
involves: 129P2/OlaHsd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Abnormal hepatocyte morphology in Cbstm1Unc/Cbs+ and Cbstm1Unc/Cbstm1Unc mice

homeostasis/metabolism
• at P21, heterozygotes show a 2-fold increase in plasma homocysteine levels relative to wild-type mice
• homocysteine concentrations decrease with age in wild-type and heterozygous mice, reaching levels of 3 nmol/ml and 7 nmol/ml, respectively, by 22 weeks of age

liver/biliary system
• hepatocytes have anisonucleosis and fairly prominent nucleoli and appear to be slightly larger

integument
N
• at 3 months, heterozygotes display normal skin and hair morphology (J:105571)

Mouse Models of Human Disease
OMIM IDRef(s)
Homocysteinemia 603174 J:23321