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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
基因编辑小鼠
Myo5a
flr
Alias:
tb
2J
flail
flr
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基础信息
表型特征
文献报道
这种变异是由于Gnb5和Myo5a基因的重排引起的,重排将Gnb5的前两个外显子的启动子与Myo5a的C端外显子融合。Flailer纯合子表达三种基因的转录本:野生型的Gnb5、野生型的Myo5a以及融合的flailer基因(来源:J:61324)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
1858520
C57BL/10J
Spontaneous
其他
隐性
1
4
3
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
No Data Found!
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