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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
Cacna1a
em1Lutzy
Alias:
Cacna1a
S220L
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基础信息
表型特征
文献报道
通过CRISPR/cas9导向的基因组编辑,S220L(TCA替换为CTG,丝氨酸替换为亮氨酸)的错义突变在Cacna1a基因的第五外显子中被引入。(来源:J:94077)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
7577429
C57BL/6J
Endonuclease-mediated
核苷酸替换
--
1
15
--
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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