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Dhdds T206A and Dhdds K42E knock-in mouse models of retinitis pigmentosa 59 are phenotypically similar.

Disease models & mechanisms - 1 Jul 2025

Nguyen Mai N, Chakraborty Dibyendu, Messinger Jeffrey, Kraft Timothy W, Sherry David M, Fliesler Steven J, Pittler Steven J

Abstract excerpt

Dehydrodolichyl diphosphate synthase complex subunit (DHDDS) is required for protein glycosylation in eukaryotes, and variants. Surprisingly, three variant alleles (K42E/K42E, T206A/K42E and R98W/K42E) have been reported to cause retinitis pigmentosa 59 (RP59). Because T206A only has been reported to occur heterozygously with K42E, we generated homozygous and hererozygous mutants - i.e. T206A/T206A and...

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Identifiers

PMID: 40574710
DOI: 10.1242/dmm.052243
PMCID: PMC12352288

Genes

DHDDS
ERG

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