The histone deacetylase 8 gene (Hdac8) gene encodes an enzyme that regulates transcription through histone acetylation and deacetylation. Mutations in this gene have been associated with neurodevelopmental disorders such as Cornelia de Lange syndrome (CdLS). To create the Hdac8I19S allele, CRISPR/Cas9 endonuclease-mediated genome editing of Hdac8 was used to introduce an I19S missense mutation that corresponds to the human clinical mutation associated with CdLS. If additional characterization of these Hdac8I19S mice is performed, we may modify the strain description accordingly. Heterozygous females and hemizygous males are viable and fertile on a B6129F1 genetic background with no overt phenotype. The donating investigator indicates that the Hdac8I19S mice are perinatal lethal on a C57BL/6J inbred background and should be maintained by breeding heterozygous females to B6129SF1 hybrid males.

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.

Hdac8I19S mice harbor a CRISPR/Cas9-generated p.Ile19ser clinical missense mutation in the X-linked Hdac8 gene. These mice may be useful for studying developmental disorders, such as Cornelia de Lange syndrome (CdLS) and X-linked intellectual disability.

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.