Kcnh1 knock-out (KO) mice have a 456bp deletion, containing exon 9, in the potassium voltage-gated channel, subfamily H (eag-related), member 1 (Kcnh1) gene. This deletion results in a frameshift and early truncation at amino acid position 580. 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 and homozygous Kcnh1 KO mice are viable and fertile with no overt phenotype and are born in expected Mendelian ratios from heterozygous intercrosses (n=36). 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.

Kcnh1 knock-out (KO) mice have exon 9 of the Kcnh1 gene deleted. This strain may be useful when studying neurodevelopmental disorders, including epileptic encephalopathy.

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.