Unc93b1<3d> Chemically induced Allele Detail MGI Mouse (MGI:3619211)

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

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

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)

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