Tlr4<Lps-d> Spontaneous Allele Detail MGI Mouse (MGI:1857718)

Tlr4^Lps-d
Spontaneous Allele Detail

Summary

Symbol:	Tlr4^Lps-d
Name:	toll-like receptor 4; defective lipopolysaccharide response
MGI ID:	MGI:1857718
Synonyms:	lps^d, mutant TLR4, Tlr4^-, Tlr4^d, TLR4d, TLR4^lps-def, TLR4-M, TLR4-Mu, Tlr^Lps-d
Gene:	Tlr4 Location: Chr4:66745788-66765338 bp, + strand Genetic Position: Chr4, 34.66 cM
Alliance:	Tlr4^Lps-d page

Mutation
origin

Strain of Origin:

C3H/HeJ

Mutation
description

Allele Type:		Spontaneous
Mutation:		Single point mutation
		Mutation details: This allele corresponds to a mutation in the third exon of the gene. A C-to-A substitution at coding tide position 2135 (c.2135C>A) results in an amino acid substitution that replaces proline with histidine at position 712 (p.P712H). (J:51522, J:53519, J:57938)
Inheritance:		Codominant

Phenotypes

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

Expression

In Mice Carrying this Mutation:	1 assay results
In Structures Affected by this Mutation:	15 anatomical structure(s)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 7 strains available Cell Lines: 0 lines available
Carrying any Tlr4 Mutation:	91 strains or lines available

Notes

C3H/HeJ mice carry this allele. Various combinations of Lps-associated traits have been followed in crosses between C3H/HeJ and other C3H substrains, and the traits have in all cases segregated together (J:30692, J:5557, J:5593, J:5938). Some of the traits show dominance of the Tlr4^lps-n allele; others, including Tlr4^Lps-d, show codominance.

Genbank ID for this allele: AF095353

References

Original:	J:5721 Dumont F, et al., Electrokinetic properties of splenic lymphocytes from the low-lipopolysaccharide responder C3H/Hej mice. Folia Biol (Praha). 1976;12(3):145-50
All:	374 reference(s)

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