一个诺他霉素选择座替换了起始密码子前500bp下游及包括所有1号外显子的区域。逆转录-PCR结果显示,这个等位基因没有检测到转录本,而对视网膜色素上皮的免疫组化结果显示未表达蛋白质。(来源:J:136113)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
插入,基因内删除
--
1
14
6

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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