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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
Atxn1
em1Horr
Alias:
Atxn1
175QK772T
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基础信息
表型特征
文献报道
CRISPR/cas9基因编辑技术被用来在含有Atxn1tm1Hzo突变体(154Q到175Q的自发三核苷酸扩张)的囊胚中引入p.K772T(赖氨酸替换为丝氨酸,AG转为CC)突变和额外的同义突变(改变PAM序列以提高编辑效率并便于基因型鉴定)。小鼠中的p.K772T突变与人类中的p.S776A位点相似。(来源:J:343335)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
7565688
B6.129S7-Atxn1tm1Hzo/175Hzo
Endonuclease-mediated
Nucleotide repeat expansion, Nucleotide substitutions
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1
1
1
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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