Unc93b1^3d
Chemically induced Allele Detail

Summary

• Symbol: Unc93b1^3d
• Name: unc-93 homolog B1, TLR signaling regulator; triple defect
• MGI ID: MGI:3619211
• Synonyms: 3d, triple D, Unc93b1^m1Btlr, UNC-93B H412R
• Gene: Unc93b1 Location: Chr19:3985222-3999340 bp, + strand Genetic Position: Chr19, 3.65 cM
• Alliance: Unc93b1^3d page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This mutation was identified in a screen of progeny of ENU-treated mice for aberrant signal transduction through toll-like receptors (TLR). It substitutes G for A in the 9th of 11 exons, replacing a highly-conserved histidine with a positively-charged arginine at amino acid 412 (H412R), which resides in the ninth of 12 predicted transmembrane domains. (J:86521, J:105484) Additional incidental mutations were detected in sequencing for the causative mutation, Unc93b1^3d, and may be present in stocks carrying this mutation.
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Unc93b1 Mutation: 39 strains or lines available

References

• Original: J:105484 Tabeta K, et al., The Unc93b1 mutation 3d disrupts exogenous antigen presentation and signaling via Toll-like receptors 3, 7 and 9. Nat Immunol. 2006 Feb;7(2):156-64
• All: 76 reference(s)