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Article

Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome.

Journal of inherited metabolic disease - 1 Nov 2007

Hager E J, Tse H M, Piganelli J D, Gupta M, Baetscher M, Tse T E, Pappu A S, Steiner R D, Hoffmann G F, Gibson K M

Abstract excerpt

In the current study our objective was to develop a murine model of human hyper-IgD syndrome (HIDS) and severe mevalonic aciduria (MA), autoinflammatory disorders associated with mevalonate kinase deficiency (MKD). Deletion of one Mvk allele (Mvk (+/-)) yielded viable mice with significantly reduced liver Mvk enzyme activity; multiple matings failed to produce Mvk (-/-) mice. Cholesterol levels in tissues and...

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Source

Identifiers

PMID: 18008182
DOI: 10.1007/s10545-007-0776-7

Genes

TNF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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