This mutation was discovered in a toll-like receptor (TLR) signaling screen of the G3 progeny of an ENU mutagenized male mouse. It has been identified as an A to T transversion at nucleotide position 732 (Genbank: NM_133211), in the third and final exon, that results in the replacement of a highly conserved asparagine by tyrosine at amino acid position 182 of the protein (N182Y), in the fifth leucine rich repeat (LRR) of the receptor's ectodomain.
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count