ENU诱导在编码区域2187位点产生了一个C到T的错义突变,导致谷氨酰胺变成终止密码,即第723位氨基酸终止。 Western blot分析显示,纯合子小鼠眼睛中未检测到任何蛋白质表达,这表明这是一种无功能基因(J:68708, J:169836)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
隐性
1
1
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
No Data Found!
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