ENU诱变产生了两个相邻的点突变(CC变为GA),导致第713位的 cysteine 被替换为 tryptophan(713位的 cysteine 被替换为色氨酸),第714位的 histidine 被替换为 asparagine(714位的 histidine 被替换为天冬氨酸),这种变异表现为 p.(Cys713_His714delinsTrpAsn)。参考文献:(J:178936)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
核苷酸替换
隐性
1
2
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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