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Allele : Cbs<tm1Unc> cystathionine beta-synthase; targeted mutation 1, University of North Carolina

Primary Identifier  MGI:1857139 Allele Type  Targeted
Attribute String  Null/knockout Gene  Cbs
Transmission  Germline Strain of Origin  129P2/OlaHsd
Is Recombinase  false Is Wild Type  false
description  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).
molecularNote  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.
  • mutations:
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • Cbs<->,
  • Cbs<->,
  • CBS-,
  • CBS-,
  • CBS,
  • CBS
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

3 Carried By

0 Driven By

142 Publication categories