这个自发突变的等位基因在第4和5号外显子之间插入了116个bp(c.864_865ins116),在第7号外显子中删除了一个碱基(c.1042delT)。这两个变异导致了框架移位和早停密码子(p.L348fsX362),源自文献J:111892和J:154763。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
CXB1/ByJ
Spontaneous
插入
--
1
3
27

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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