| Primary Identifier | MGI:7484403 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence, Hypomorph | Gene | Sbds |
| Inheritance Mode | Not Specified | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | A 53bp segment of DNA containing the intron 2 5-prime splice site of endogenous mouse Sbds was replaced with 50 bp containing the intron 2 5-prime splice site found in human shwachman-diamond syndrome patients, c.258+2T>C. Assessment in MEFs shows that this is a hypomorph with aberrant splicing from a cryptic exon 2 splice site, and exon 2 skipping, with the residual wild type expression less than that found in the human samples. |
