This mutation was identified in a lipopolysaccharide (LPS)/nigericin responsiveness screen of G3 progeny of an ENU mutagenized male mouse. It comprises a G to A transition at nucleotide position 2192, in the third and last exon of the gene, which results in substitution of aspartic acid for glycine at amino acid position 724 (G724D); this amino acid, which resides within the alpha-beta helix of the protein-protein interacting TIR domain of the receptor, is conserved among TLR4 orthologs. (J:147339)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count