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中文
这个自发的G到A的点突变，发生在exon 8的最后一个位置，导致内含子的splice donor位点G-GT被改变为A-GT。这使得一个隐藏的splice donor(A-GT)28bp下游被使用。由此，exon 8的3'端延长了28bp，产生了移位。免疫组化在视网膜中去极化双极细胞的树突端未检测到这种蛋白质，这表明这是一种无功能的等位基因。(来源：J:229885)
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
