The mutation comprises an A to G transition at position 398 of the mRNA sequence (Genbank accession NM_008527), in the fourth of the gene's 6 exons, resulting in replacement of aspartic acid by glycine at amino acid position 100 (D100Q) of the natural killer receptor protein 1C (NKR-P1C, also known as NK1.1). This protein, which normally is present on the surface of natural killer (NK) cells and natural killer T (NKT) lymphocytes, is absent in homozygous mutant mice and present at ~50% of normal levles in heterozygous mutants. (J:159356)