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PMID:11294571
| Citation |
Bihl, F, Larivière, L, Qureshi, ST, Flaherty, L and Malo, D (2001) LPS-hyporesponsiveness of mnd mice is associated with a mutation in Toll-like receptor 4. Genes Immun. 2:56-9 |
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| 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. |
| Links |
PubMed Online version:10.1038/sj.gene.6363732 |
| Keywords |
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 |
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Significance
Annotations
| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
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