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. Howeve...
Topics
- Animals
- Cholesterol
- Disease Models, Animal
- Genes, Recessive
- Genotype
- Heterozygote
- Homozygote
- Liver
- Mice
- Mice, Inbred C57BL
- Mice, Inbred DBA
- Mice, Mutant Strains
- Niemann-Pick Diseases
- Phospholipids
- Splenomegaly