Kcnh1KCNH1*P560S knock-in (KI) mice have a humanized exon 9 harboring the P560S mutation, 125bp of upstream human intronic DNA, and 100bp of downstream human intronic DNA, replacing mouse exon 9 and flanking intronic regions in the potassium voltage-gated channel, subfamily H (eag-related), member 1 (Kcnh1) gene. Kcnh1 codes for a crucial potassium channel involved in regulating neuronal excitability. Mutations in the gene are associated with neurodevelopmental disorders, such as epileptic encephalopathy. Heterozygous Kcnh1KCNH1*P560S KI mice are viable and are born at expected Mendelian ratios in WT x Het (and reciprocal) breeding (n=108). Heterozygous females are frequently non-productive when mated to WT males (4 of 9 trios non-productive). Heterozygous males are productive in breeding, but first litters are often delayed by several weeks. Inter-breeding of heterozygous mice resulted in a high incidence of non-productivity (~50% non-productive). Successful heterozygote intercrosses did not yield viable homozygous progeny when sampled at post-natal day 14 (n=23). If additional characterization of these mice is performed, we may modify the strain description accordingly.

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.

Kcnh1KCNH1*P560S knock-in mice have a humanized exon 9, harboring the P560S mutation, replacing mouse exon 9 of the Kcnh1 gene. This strain may be useful for studying epileptic encephalopathies.

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.