Sbds^{em1(SBDS*)Dbau}

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. (J:335832)