The mutant phenotype, discovered in an ENU mutagenesis screen for impaired response of peritoneal macrophages to Toll-like receptor (TLR) ligands, is due to a T-to-C transition at nucleotide position 1284 (Genbank Accession NM_031178) in the second of two exons. It results in replacement of leucine by proline at amino acid position 393 (L393P), the initial leucine in the fourteenth extracellular leucine-rich repeat of the receptor's ectodomain. (J:132489)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Other (see notes)
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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