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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
Cblb
tm1Pngr
Alias:
Clb-b-
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基础信息
表型特征
文献报道
一个新霉素插件替换了编码部分酪氨酸激酶结合区和RING finger域的区域,这对应于编码蛋白的第300到340位氨基酸。 Western blot分析显示,纯合小鼠的淋巴结和脾细胞中没有蛋白表达(来源:J:76896)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
2180570
129P2/OlaHsd
Targeted
插入,基因内删除
--
1
1
37
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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