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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
Mstn
Cmpt
Alias:
Berlin High Line, BEH
C/C)
Mstn
Cmpt-dl1Abc
Compact
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基础信息
表型特征
文献报道
这个12个碱基对的缺失,发生在775到786的位置,对应于氨基酸224到228。这个变异影响了引导序列区域,可能影响蛋白质的正确定位、折叠或分泌(来源:J:48785)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
1857404
HCR
Spontaneous
基因内删除
半显性
1
2
12
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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