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基因组PCR和DNA测序分析表明，这一变异是一个从启动子甲硫氨酸前11.1千核苷酸处的区域到内含子2的缺失。北向和RT-PCR结果显示，这些突变动物中无法检测到野生型的转录本。同源纯合突变黑色素细胞的 Western blot 分析也证实了该变异在蛋白水平上未表达。(来源：J:94728)
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
