| 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. |
