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1982•Journal of Inherited Metabolic DiseaseRequires access

A lysosomal storage disorder in mice: A model of Niemann‐Pick disease

Takeshi Sakiyama, Masahiko Tsuda, Teruo Kitagawa, Ryojiro Fujita, S Miyawaki

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Abstract

Abstract Recently a strain of C57 BL/KsJ mice showed a progressive degenerative neurologic manifestation with hepatosplenomegaly, similar to Niemann‐Pick disease in humans (Miyawakiet al., 1982). Niemann‐Pick disease (McKusick 25720), a rare genetic disorder, is characterized by sphingomyelin accumulation, parti cularly in the reticuloendothelial system, due to a genetic defect of sphingomyelin catabolism. Animal models as an analogue of human Niemann‐Pick disease have been found in the Siamese cat (Chrispet al., 1970) and CBA mice (Lyonet al., 1965), but no other reports on these strains have been available. The ethical and scientific limitations of human experimentation have made necessary investigations with appropriate animal sys tems. We report here a new murine model to study a lysosomal storage disorder.

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What this paper is about

Abstract Recently a strain of C57 BL/KsJ mice showed a progressive degenerative neurologic manifestation with hepatosplenomegaly, similar to Niemann‐Pick disease in humans (Miyawakiet al., 1982). Niemann‐Pick disease (McKusick 25720), a rare genetic disorder, is characterized by sphingomyelin accumulation, parti cularly in the reticuloendothelial system, due to a genetic defect of sphingomyelin catabolism. Animal models as an analogue of human Niemann‐Pick disease have been found in the Siamese cat (Chrispet al., 1970) and CBA mice (Lyonet al., 1965), but no other reports on these strains have been available. The ethical and scientific limitations of human experimentation have made necessary investigations with appropriate animal sys tems. We report here a new murine model to study a lysosomal storage disorder.

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Available abstract

Abstract Recently a strain of C57 BL/KsJ mice showed a progressive degenerative neurologic manifestation with hepatosplenomegaly, similar to Niemann‐Pick disease in humans (Miyawakiet al., 1982). Niemann‐Pick disease (McKusick 25720), a rare genetic disorder, is characterized by sphingomyelin accumulation, parti cularly in the reticuloendothelial system, due to a genetic defect of sphingomyelin catabolism. Animal models as an analogue of human Niemann‐Pick disease have been found in the Siamese cat (Chrispet al., 1970) and CBA mice (Lyonet al., 1965), but no other reports on these strains have been available. The ethical and scientific limitations of human experimentation have made necessary investigations with appropriate animal sys tems. We report here a new murine model to study a lysosomal storage disorder.

Key concepts: Niemann–Pick disease, Sandhoff disease, Lysosomal storage disease, Sphingomyelin, Hepatosplenomegaly, Disease, Niemann–Pick disease, type C, Animal model

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