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Targeted Allele Detail
Symbol: Mefvtm3.1(MEFV)Chae
Name: Mediterranean fever; targeted mutation 3.1, Jae Jin Chae
MGI ID: MGI:5007912
Synonyms: MefvM680I
Gene: Mefv  Location: Chr16:3707215-3718124 bp, - strand  Genetic Position: Chr16, 2.18 cM
Germline Transmission:  Earliest citation of germline transmission: J:172117
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutations:    Insertion, Intragenic deletion
Mefvtm3.1(MEFV)Chae expresses 1 gene
Mutation detailsA 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Mefv Mutation:  1 strain or line available
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
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
The Jackson Laboratory