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| Nomenclature |
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Symbol:
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Nlrp3tm2Hhf
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Name:
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NLR family, pyrin domain containing 3;
targeted mutation 2, Hal M Hoffman
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MGI ID: |
MGI:3850013 |
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Synonyms: |
Nlrp3L351PneoR |
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Gene:
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Nlrp3
Location:
Chr11:59541568-59566955 bp, + strand
Genetic Position: Chr11,
37.73 cM, cytoband B1.3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:150054
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129/Sv
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: The leucine 353 to proline human mutation associated with familial cold autoinflammatory syndrome was produced in mice by changing the equivalent leucine at position 351 to a proline (L351P). A floxed neomycin cassette was inserted in the reverse orientation into intron 2, which is upstream of the point mutation in exon 3. Sequence analysis of transcripts isolated from heterozygote mice demonstrate the mutant allele is not expressed due to the presence of the neomycin cassette. In the presence of cre recombinase, the neomycin cassette is removed and the mutant allele is expressed. (J:150054)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:150054
Brydges SD et al.,
"Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity."
Immunity 2009 Jun 19;30(6):875-87
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All: |
1 reference(s)
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Analysis Tools
