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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
