Irf8^M1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Irf8^M1Btlr
• Name: interferon regulatory factor 8; mutation 1, Bruce Beutler
• MGI ID: MGI:4835995
• Synonyms: Gemini
• Gene: Irf8 Location: Chr8:121463097-121483433 bp, + strand Genetic Position: Chr8, 70.05 cM
• Alliance: Irf8^M1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The Gemini mutation has been identified as a C to T transition at nucleotide position 387 of the transcript, in the third of the gene's nine exons. It converts a triplet encoding glutamine at amino acid position 118 to a termination codon (Q118Ter), which truncates the protein by 307 amino acids at its carboxyl terminus. (J:86521, J:166600) Additional incidental mutations were detected in sequencing for the causative mutation, Irf8^M1Btlr, and may be present in stocks carrying this mutation.
• Inheritance: Semidominant

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Irf8 Mutation: 32 strains or lines available

References

• Original: J:166600 Blasius AL, et al., Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells. Proc Natl Acad Sci U S A. 2010 Nov 16;107(46):19973-8
• All: 6 reference(s)