期刊
GENES AND IMMUNITY
卷 2, 期 1, 页码 56-59出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.gene.6363732
关键词
rodent; endotoxin shock; infectious immunity; bacteria; lipopolysaccharide; molecular biology
Toll-like receptors (Tlrs) are transmembrane proteins that have recently been shown to play a critical role in the innate immune recognition of microbial constituents. Among this family, Tlr4 is a crucial signal transducer for lipopolysaccharide (LPS), the major component of the Gram-negative bacteria outer cell membrane. In this paper, we report that C57BL/6.KB2-mnd mice, a model of neuronal ceroid lipofuscinosis, do not respond to LPS. This defect is associated with a spontaneous mutation in Tlr4 consisting of a large insertion within exon 2 predicting a frameshift mutation and a truncated protein. Genes and Immunity (2001) 2, 56-59.
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