About   Help   FAQ
Cbstm1Unc
Targeted Allele Detail
Nomenclature
Symbol: Cbstm1Unc
Name: cystathionine beta-synthase; targeted mutation 1, University of North Carolina
MGI ID: MGI:1857139
Synonyms: Cbs-, CBS, CBS-
Gene: Cbs  Location: Chr17:31612623-31637199 bp, - strand  Genetic Position: Chr17, 16.93 cM, cytoband A-C
Abnormal hepatocyte morphology in Cbstm1Unc/Cbs+ and Cbstm1Unc/Cbstm1Unc mice

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:23321
Parent Cell Line:  BK4 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation details
Phenotypes
Loading...
View phenotypes for all genotypes (concatenated display).
Disease models
Loading...
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Cbs Mutation:  3 strains or lines available
Notes
Homozygotes may serve as models of severe homocysteinemia and increase our understanding of the pathophysiology of CBS deficiency, while the apparently healthy heterozygotes will elucidate the role of moderately increased homocysteine levels on the etiology of cardiovascular diseases (J:23321).

References
Original:  J:23321 Watanabe M, et al., Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia. Proc Natl Acad Sci U S A. 1995 Feb 28;92(5):1585-9
All:  77 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
10/21/2014
MGI 5.20
The Jackson Laboratory