The targeted Setbp1 gene encodes a protein that bind the SET nuclear oncogene. Mutations in this gene have been associated with SETBP1 disorder, previously referred to as Mental retardation, autosomal dominant 29, and&nbsp;Schinzel-Giedion midface retraction syndrome. Exon 4 of the Setbp1 gene is flanked by loxP sites in this conditional mutant strain. Homozygous mice are viable and fertile. As the mice are characterized, we will modify the strain description and add phenotype data.

Exon 4 of the Setbp1 (SET binding protein 1) gene is flanked by loxP sites in this conditional mutant strain. These mice may be useful in studies of SETBP1 disorder and Schinzel-Giedion midface retraction syndrome.

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.