这种自发突变是一种基因组缺失,涉及替代exon2,预测会导致Nedd4l最长同源物的截断变异。免疫印迹分析,使用识别保守表位的抗肽抗体,在野生型肾中检测到两种Nedd4l蛋白,大小分别为约115kDa和101kDa。在该突变等位基因纯合小鼠中,未检测到较长同源物的转录本。(来源:J:165173)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BALB/cByJ
Spontaneous
基因内删除
隐性
1
2
4

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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