This mutation was identified in a toll-like receptor (TLR) signaling screen of G3 progeny of an ENU mutagenized male mouse. It comprises a T to C transition at nucleotide position 473, in the fourth of ten total exons, that results in replacement of a highly conserved leucine by proline at amino acid position 153 of the protein (L153P; variant 1, Genbank: NM_178590), in the first coiled-coil (CC1) domain. (J:139558)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count