This revertant to wild-type of the Tlr4Lps-d, defective lipopolysaccharide response, allele was identified in a screen for LPS responsiveness of several C3H/He sublines maintained at Australian facilities. Sequence analysis of Tlr4 in the vicinity of the original mutation, which replaced C with A at nucleotide position 2342 and changed a triplet (CCT) encoding proline with a codon (CAT) for histidine in the third exon, demonstrated that C3H/HeJArc and its derivative congenic strains bear a Tlr4 allele identical in sequence to wild-type. As Tlr4Lps-d occurred in C3H/HeJ between 1958 and 1965 (J:5919) and C3H/HeJArc has been maintained at the Animal Resources Centre (subsequently acquired by Ozgene) in Murdoch, WA, Australia since no earlier than 1971 (J:169915), the apparent wild-type allele in this strain is presumed to have arisen by reverse mutation. (J:169915)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H/HeJArc
Spontaneous
Single point
Codominant
1
2
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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