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Phenotypes Associated with This Genotype
Genotype
MGI:3623007
Allelic
Composition
Cbstm1Unc/Cbs+
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)
phenotype observed in females
phenotype observed in males
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

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


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
08/17/2016
MGI 6.05
The Jackson Laboratory