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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
Camk2a
tm4Sva
Alias:
TT305/6VA
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基础信息
表型特征
文献报道
原内源序列,编码第305和306位的丝氨酸被通过同源重组的方式,用编码异亮氨酸和亮氨酸的序列替换。替换丝氨酸为非磷酸化氨基酸,目的是抑制目标位置的自磷酸化。在纯合突变小鼠的 Western blot 检测中,发现正常大小的蛋白质水平大约只有野生型小鼠的两倍。针对第305和286位丝氨酸磷酸化的抗体分析显示,仅检测到了第286位的免疫反应。该位点保留了一个loxP位点。(来源:J:79714)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
2389254
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Nucleotide substitutions
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1
3
5
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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