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| Nomenclature |
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Symbol:
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Mefvtm3.1(MEFV)Chae
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Name:
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Mediterranean fever;
targeted mutation 3.1, Jae Jin Chae
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MGI ID: |
MGI:5007912 |
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Synonyms: |
MefvM680I |
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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:172117
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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 (knock-in) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A floxed neo cassette was inserted downstream of exon 6. The genomic sequence corresponding to exons 7 through 10 was replaced with the corresponding human sequence with nucleotide substitutions that result in the amino acid substitution of isoleucine for methionine at position 680 (M680I). The amino acid substitutions within exon 10 occur in the human-specific B30.2 domain. Cre-mediated recombination removed the neo cassette. (J:172117)
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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:172117
Chae JJ et al.,
"Gain-of-Function Pyrin Mutations Induce NLRP3 Protein-Independent Interleukin-1beta Activation and Severe Autoinflammation in Mice."
Immunity 2011 May 27;34(5):755-68
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All: |
1 reference(s)
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Analysis Tools
