This mutation was identified in a toll-like receptor (TLR) signaling screen of G3 progeny of an ENU mutagenized male mouse. It comprises a T to C transition at nucleotide position 473, in the fourth of ten total exons, that results in replacement of a highly conserved leucine by proline at amino acid position 153 of the protein (L153P; variant 1, Genbank: NM_178590), in the first coiled-coil (CC1) domain. (J:139558)

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
10
2

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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