Phenotypes Associated with This Genotype

Genotype
MGI:3623007

• Allelic Composition: Cbs^tm1Unc/Cbs⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Abnormal hepatocyte morphology in Cbs^tm1Unc/Cbs⁺ and Cbs^tm1Unc/Cbs^tm1Unc mice

homeostasis/metabolism

abnormal circulating homocysteine level ( J:23321 )

• 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

abnormal hepatocyte morphology ( J:23321 )

• hepatocytes have anisonucleosis and fairly prominent nucleoli and appear to be slightly larger

integument

integument phenotype ( J:105571 )

N • at 3 months, heterozygotes display normal skin and hair morphology