This mutation, discovered in a screen of progeny of ethylnitrosourea (ENU) mutagenized mice for impaired responses to Toll-like receptor (TLR) ligands, has been identified as a T to C transition at nucleotide position 1181 of the transcript that is predicted to result in the replacement of serine by proline at amino acid position 359 of the protein (S359P), in the second leucine rich repeat. (J:165701)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count