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| Nomenclature |
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Symbol:
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Mefvtm1Chae
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Name:
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Mediterranean fever;
targeted mutation 1, Jae Jin Chae
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MGI ID: |
MGI:2655791 |
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Gene:
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Mefv
Location:
Chr16:3707215-3718124 bp, - strand
Genetic Position: Chr16,
2.18 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:82763
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Parent Cell Line:
| TC1/TC-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Homologous recombination of a targeting vector containing EGFP and neo replaced a 3' portion of exon 3. The disruption was designed to leave the PYRIN domain intact, similar to mutations identified in patients with famial mediterrean fever. Western blot analysis of peritoneal macrophages obtained from homozygous mutant mice identified a truncated protein containing GFP. (J:82763)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Mefv Mutation:
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1 strain or line available |
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| References |
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Original: |
J:82763
Chae JJ et al.,
"Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis."
Mol Cell 2003 Mar;11(3):591-604
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All: |
1 reference(s)
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Analysis Tools
