Mefv^tm1Chae
Targeted Allele Detail

Summary

• Symbol: Mefv^tm1Chae
• Name: Mediterranean fever; targeted mutation 1, Jae Jin Chae
• MGI ID: MGI:2655791
• Gene: Mefv Location: Chr16:3525082-3535961 bp, - strand Genetic Position: Chr16, 2.18 cM
• Alliance: Mefv^tm1Chae page

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 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)

Disease models

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: 46 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)