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Mefvtm1Chae
Targeted Allele Detail
Nomenclature
Symbol: Mefvtm1Chae
Name: Mediterranean fever; targeted mutation 1, Jae Jin Chae
MGI ID: MGI:2655791
Gene: Mefv  Location: Chr16:3707218-3718097 bp, - strand  Genetic Position: Chr16, 2.18 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:82763
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsHomologous 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
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:  27 strains or lines available
References
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
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/16/2021
MGI 6.16
The Jackson Laboratory