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Targeted Allele Detail
Symbol: Cbstm1Unc
Name: cystathionine beta-synthase; targeted mutation 1, University of North Carolina
MGI ID: MGI:1857139
Synonyms: Cbs-, CBS, CBS-
Gene: Cbs  Location: Chr17:31831597-31856207 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.

Germline Transmission:  Earliest citation of germline transmission: J:23321
Parent Cell Line:  BK4 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA neomycin selection gene replaced a genomic fragment containing exons 3 and 4, which contains sequences encoding conserved residues thought to be required for protein activity. Northern blot analysis on mRNA derived from liver tissue of homozygous mice demonstrated that no stable transcript is produced from this allele. (J:23321)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 9 assay results
In Structures Affected by this Mutation: 25 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Cbs Mutation:  31 strains or lines available
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).
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:  123 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.17
The Jackson Laboratory