Mefv^{tm3.1(MEFV)Chae}
Targeted Allele Detail

Summary

• Symbol: Mefv^{tm3.1(MEFV)Chae}
• Name: Mediterranean fever; targeted mutation 3.1, Jae Jin Chae
• MGI ID: MGI:5007912
• Synonyms: Mefv^M680I
• Gene: Mefv Location: Chr16:3525082-3535961 bp, - strand Genetic Position: Chr16, 2.18 cM
• Alliance: Mefv^{tm3.1(MEFV)Chae} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:172117
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Intragenic deletion
• Mefv^{tm3.1(MEFV)Chae} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  MEFV (4210)

  Mefv	(MGI:1859396)

• 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 (p.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)

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: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: 2 reference(s)