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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
Acan
cmd-Bc
Alias:
cmd-Bc
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基础信息
表型特征
文献报道
这个等位基因包含一个导致2到18号外显子完全缺失的缺失突变,导致mRNA显著缩短。上游断裂点位于1号内含子,距离1号外显子末端18.8千碱基;下游断裂点位于aggrecan最后一个外显子18之后的10.5千碱基位置。(来源:J:58755)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
1855999
BALB/cGaBc
Spontaneous
基因内删除
隐性
1
5
4
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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