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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
Gck
Rgsc960
Alias:
Gck
S127P
M100960
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基础信息
表型特征
文献报道
这种突变是在一个ENU诱变筛选中发现的,涉及到了第4外显子中的一个T到C转换,导致蛋白质第127位的丝氨酸被脯氨酸替换(S127P,引用自J:137483)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3811737
C57BL/6JJcl
Chemically induced
单点
半显性
1
11
1
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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