This mutation was discovered in a TLR Signaling Screen of G3 progeny of an ENU mutagenized male mouse. The mutation comprises an A to T transversion at nucleotide position 1501 of the gene (Genbank: NM_011604) that results in conversion of a triplet encoding arginine at amino acid position 457 to a termination codon (R457Ter), truncating the protein by 349 amino acids at its C terminus. (J:144166)

Basic Information

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