DhddsDHDDS*R205Q knock-in (KI) mice have a humanized exon 7 harboring the R205Q mutation, 1000bp of upstream human intronic DNA, and 750bp of downstream human intronic DNA, replacing mouse exon 7 and flanking intronic regions in the dehydrodolichyl diphosphate synthase (Dhdds) gene. Dhdds codes for an enzyme critical for dolichol biosynthesis and protein glycosylation. Mutations in the gene are associated with congenital glycosylation disorder, autosomal recessive retinitis pigmentosa, and epilepsy. The R205Q missense mutation has been implicated in a rare familial disease were patients demonstrate myoclonic epilepsy, tremors, ataxia and intellectual disability. Heterozygous DhddsDHDDS*R205Q KI mice are viable and fertile with no overt phenotype. The donating laboratory indicates that intercrossing of heterozygous mice did not yield any viable homozygous mice when progeny sampled by 14 days of age (n=76). If additional characterization of these mice is performed, we may modify the strain description accordingly.

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DhddsDHDDS*R205Q knock-in mice have a humanized exon 7, harboring the R205Q mutation, replacing mouse exon 7 of the Dhdds gene. This strain may be useful for studying epileptic encephalopathies.

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