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

Genes Immun. 2001 Feb;2(1):56-9. doi: 10.1038/sj.gene.6363732.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • DNA Primers
  • Drosophila Proteins*
  • Lipopolysaccharides / pharmacology*
  • Membrane Glycoproteins / genetics*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Mutation*
  • Neuronal Ceroid-Lipofuscinoses / genetics
  • Phenotype
  • Receptors, Cell Surface / genetics*
  • Toll-Like Receptor 4
  • Toll-Like Receptors

Substances

  • DNA Primers
  • Drosophila Proteins
  • Lipopolysaccharides
  • Membrane Glycoproteins
  • Receptors, Cell Surface
  • Toll-Like Receptor 4
  • Toll-Like Receptors