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Publication : LPS-hyporesponsiveness of mnd mice is associated with a mutation in Toll-like receptor 4.

First Author  Bihl F Year  2001
Journal  Genes Immun Volume  2
Issue  1 Pages  56-9
PubMed ID  11294571 Mgi Jnum  J:103167
Mgi Id  MGI:3608578 Doi  10.1038/sj.gene.6363732
Citation  Bihl F, et al. (2001) LPS-hyporesponsiveness of mnd mice is associated with a mutation in Toll-like receptor 4. Genes Immun 2(1):56-9
abstractText  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.
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