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. |