This mutation was discovered in a toll-like receptor (TLR) signaling screen of the G3 progeny of an ENU mutagenized male mouse. It has been identified as an A to T transversion at nucleotide position 732 (Genbank: NM_133211), in the third and final exon, that results in the replacement of a highly conserved asparagine by tyrosine at amino acid position 182 of the protein (N182Y), in the fifth leucine rich repeat (LRR) of the receptor's ectodomain.

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
4
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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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