The Dhps (deoxyhypusine synthase) gene encodes an enzyme important in hypusine amino acid biosynthesis. Mutations in this gene have been associated with deoxyhypusine synthase disorder, a rare disorder characterized by neurodevelopmental delay and seizures beginning in childhood.To create the Dhpsem3Lutzy (DhpsN173S)
 allele, CRISPR/Cas9 endonuclease-mediated genome editing of exon 4 was 
used to introduce a N173S missense mutation, a pathogenic variant in a patient with a neurodevelopmental disorder. If additional characterization of these 
mice is performed, we may modify the strain description accordingly. 
Both heterozygous and homozygous mice are viable and fertile. This mutation is lethal on the C57BL/6J background.&nbsp;

The use of this mouse model is subject to the terms and conditions of the Limited Use Label License from Caribou Biosciences, Inc.

The use of this mouse strain or other product (the "Licensed Product") is subject to the terms and conditions of the Limited License from The Broad Institute.

DhpsN173S is a CRISPR/Cas9-generated mutant of the deoxyhypusine synthase gene carrying the N173S missense mutation in exon 4. These mice may be useful in studying deoxyhypusine synthase disorder.

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.