Identification of point mutation in autoinflammation mice. (A) SNP mapping of autoinflammation mutation. The figure presents the linkage of the mutant phenotype to the distal region of chromosome 18 (position 18.079.679). Two hundred eighty-five SNP markers are plotted on the x-axis, ordered by chromosome location. The graph shows the percentage of C57BL/6 J genetic background calculated from 10 autoinflammation mice. (B) Fine mapping of chromosome 18. The proximal border is defined by marker rs13955, whereas the distal border is defined by marker rs13956. The data were obtained from 28 affected mice. (C) Sequences of Pstpip2 gene from wildtype, heterozygous, and homozygous mutant mice revealed a c.240A⋄G(Y180C) mutation in exon 8. The C57BL/6 J and C3H carry an A at the respective position. Heterozygous mice show a G/A double-peak. Autoinflammation mice carry only a G.