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)
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等位基因类型
突变
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C57BL/6J
Chemically induced
Single point
Not Specified
1
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hm: 纯合子
ht: 杂合子
cn: 条件基因型
cx: 复合型:涉及多基因组
tg: 转基因
ot: 其他:半合子、不确定...
(F): 雌性
(M): 雄性
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(#): 上标括号内为相关疾病数量
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