这种突变发生在7号内含子的-2位置,5'上游的A转C替换,从CAG变成了CCG,导致转录本的异常剪接。免疫印迹结果显示这些小鼠细胞中没有检测到完整的NCF1蛋白。(来源:J:83428)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6.Cg-Dock7m +/+ Leprdb/J
Spontaneous
单点
隐性
1
6
118

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
No Data Found!
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