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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
Kit
tm1Bsm
Alias:
Kit
Y719F-neo
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基础信息
表型特征
文献报道
通过敲入策略,将719位的酪氨酸替换成苯丙氨酸(Y719F),这个突变是为了阻止SH2域蛋白,包括PI3-激酶p85亚基的结合,并阻断后续信号传导。新霉素的保留导致kit表达减少了75%(来源:J:61141)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
2178053
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion, Nucleotide substitutions
--
1
27
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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