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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
Sftpc
tm1Mfbs
Alias:
Sftpc
I73T-neo
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基础信息
表型特征
文献报道
在N端血小板糖蛋白(HA)标签的序列编码插入发生在起始密码子(ATG)之后的第1外显子,第3外显子的伊莱酸(Leu)密码子73被替换为苏氨酸(p.I73T)。同时,第1内含子插入了FRT周围编码耐药性基因(Neo)和由gb2启动子驱动的卡那霉素抗性基因 cassette(kanamycin resistance gene cassette),干扰了基因的表达,转录本表达量为15%。(来源:J:267027)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
6360467
Not Specified
Targeted
Insertion, Nucleotide substitutions
--
1
5
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
No Data Found!
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