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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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基因编辑小鼠
Gsdma3
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基础信息
表型特征
文献报道
单个碱基c.1042由A变为T的替换,导致第348位的Alanine被Threonine替换,即p.A348T。将这种突变的BAC克隆导入野生型小鼠中,会呈现出与携带该等位基因的小鼠相同的表型。(来源:J:122738)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
1861663
H2wm7 x B10.MOL-SGR x B10.H2
Spontaneous
单点
显性
1
--
2
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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