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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
Casr
Nuf
Alias:
iPMS-112
Nuf
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基础信息
表型特征
文献报道
这种突变是通过用异丙基甲烷磺酸钠处理雄性小鼠诱导产生的。测序结果显示第四个跨膜域有一个T到A的错义突变,导致了亮氨酸替换为谷氨酰胺。 Western blot结果显示,无论是突变型还是野生型,都存在一个167KD的蛋白质。(来源:J:92612)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3054788
(C3H/He x 102/El)F1
Chemically induced
单点
显性
1
6
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
No Data Found!
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