Klrb1cm1Btlr
Chemically induced Allele Detail
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Symbol: |
Klrb1cm1Btlr |
Name: |
killer cell lectin-like receptor subfamily B member 1C; mutation 1, Bruce Beutler |
MGI ID: |
MGI:4442848 |
Synonyms: |
Unnatural |
Gene: |
Klrb1c Location: Chr6:128755448-128765514 bp, - strand Genetic Position: Chr6, 63.09 cM
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Alliance: |
Klrb1cm1Btlr page
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Strain of Origin: |
C57BL/6J
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Project Collection: |
Beutler Mutagenetix
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Allele Type: |
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Chemically induced (ENU) |
Mutation: |
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Single point mutation
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Mutation details: 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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Inheritance: |
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Not Specified |
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Original: |
J:159356 Siggs OM, et al., Unnatural is an allele of Klrb1c, which encodes NKR-P1C/NK1.1. MGI Direct Data Submission. 2010; |
All: |
1 reference(s) |
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