从4到6号外显子被删除了。 Western blot显示突变小鼠所有组织中完全没有蛋白质。定量RT-PCR确认了全长转录本的缺失,尽管检测到了较短的、smir型和低表达的片段,这与非编码依赖的mRNA降解过程相符(来源:J:104122)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
基因内删除
--
1
--
11

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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