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中文
这个由ENU诱发的18号外显子的T到A转换，将酪氨酸密码子652(TAT)替换为终止密码子(TAA)(p.Tyr652*)。这种早发的终止密码导致编码肽的C端螺旋结构大部分被截断。对视网膜的RT-qPCR结果显示，短剪接变异体显著减少，但长剪接变异体似乎不经历密码子决定的降解。(引用:J:297748)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
