这种突变是在对ENU处理的小鼠G3后代中,通过筛选对多种 Toll-like受体配体的响应发现的,是一种A到G的转换,导致第327位的Valine被Alanine替换(V327A),位于蛋白质外区的第二个和第三个Leucine丰富区域(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
--
6

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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