A C-to-T point mutation located in exon 27 results in an Arg to Trp substitution at position 1094 (p.R1094W). Homozygous mice show a mild reduction in protein levels in bone marrow derived dendritic cells. (J:220239)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count