这段描述中,一个841bp的缺失发生在靠近启动子的部分,并延伸到内含子1。插入了41bp,其中前39bp是内含子1序列的重复,取代了缺失的部分。缺失的exon1包含了起始翻译位点。逆转录PCR结果显示,这个等位基因产生了包含内含子1序列的异常转录本。(来源:J:241031)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6N
Spontaneous
Duplication, Intragenic deletion
显性
1
8
1

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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