| Primary Identifier | MGI:2388038 | Allele Type | Targeted |
| Attribute String | Null/knockout | Gene | Blm |
| Transmission | Germline | Strain of Origin | 129P2/OlaHsd |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | Exons 10, 11, and 12 were replaced by an hprt cassette inserted by homologous recombination. The deletion was designed to recapitulate the BLMAsh allele, which is carried by approximately 1% of Ashkenazi Jews and contains a frameshift mutation in exon 10 that results in the premature truncation of the encoded protein. Western blot analysis of lysates from heterozygous testes tissue showed reduced levels of normal protein and an absence of truncated protein. No protein was detected in lysates from homozygous mutant embryos. |
