这项突变是在对ENU处理的小鼠G3后代筛选中,针对多种TLR配体的响应发现的,它是一个A到G的转换,导致在蛋白质的死亡域(19-109位)和Toll-IL-1受体(TIR)域(160-296位)之间,替换了酪氨酸( Tyr)为 cysteine( Cys),位置为第116位(Y116C)。(来源:J:86521, J:110094)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Chemically induced
单点
隐性
1
4
3

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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