由于一个基因组缺失(染色体18:58,012,626-58,014,322 GRCm38),这个变异包括了第63号外显子,导致来自这个等位基因的转录本缺失了65个总外显子中的第63个,且不正确地将第62号外显子拼接到第64号,造成框架移位和过早终止。(来源:J:263533)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Spontaneous
基因内删除
--
1
4
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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