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Article

A mouse model for Niemann-Pick disease. Influence of genetic background on disease expression in spm/spm mice.

The Journal of heredity - 1 Jan 2000

Miyawaki S, Yoshida H, Mitsuoka S, Enomoto H, Ikehara S

Abstract excerpt

Sphingomyelinosis (spm), an autosomal recessive mutation in mice originally occurred in the C57BL/KsJ inbred strain. Spm/spm mice of this genetic background show striking hepatosplenomegaly with a marked accumulation of sphingomyelin and cholesterol due to a deficiency of sphingomyelinase. However, in spm/spm mice of C57BL/6J and DBA/2J backgrounds, hepatosplenomegaly was not pronounced in spite of marked...

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PMID: 3559164
DOI: 10.1093/oxfordjournals.jhered.a110265

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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