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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
Psen1
tm1Mpm
Alias:
PS1KI
PS1M146VKI
-
PS1M146V
PS-1 M146V KI
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基础信息
表型特征
文献报道
在exon 5的编码区域引入了点突变,将145和146位的氨基酸从异亮氨酸和甲硫氨酸替换为缬氨酸和缬氨酸,同时增加了BstEII的限制酶切割位点。在exon 4中插入了含lox-P标记的诺卡因 cassette。F2小鼠在使用特异的exon 5引物扩增基因组DNA,并用相应限制酶切割后,表现出预期的靶向等位基因的遗传多样性。对总脑RNA进行Northern blot分析,使用Psen1特异性抗体检测,结果显示纯合突变鼠中,目标等位基因的表达处于正常生理水平。(来源:J:51950)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
1930937
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Nucleotide substitutions
--
1
17
550
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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