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| Nomenclature |
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Symbol:
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Cbstm1Unc
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Name:
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cystathionine beta-synthase;
targeted mutation 1, University of North Carolina
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MGI ID: |
MGI:1857139 |
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Synonyms: |
Cbs-, CBS, CBS- |
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Gene:
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Cbs
Location:
Chr17:31612623-31637199 bp, - strand
Genetic Position: Chr17,
16.93 cM, cytoband A-C
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Abnormal hepatocyte morphology in Cbstm1Unc/Cbs+ and Cbstm1Unc/Cbstm1Unc mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:23321
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Parent Cell Line:
| BK4 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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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).
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| References |
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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
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All: |
69 reference(s)
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Analysis Tools
