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在exon 7.2中的Cys-255被替换为终止密码子，并在基因组序列末尾添加了一个neo cassette。通过 Western blot 在视网膜提取物上检测到了40 kDa和一个轻微的50 kDa蛋白质条带，这表明蛋白表达得到了确认。(来源：J:125588)
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
