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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
Gls006
Alias:
Gck
D217V
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基础信息
表型特征
文献报道
ENU诱变在第6外显子产生了一个A到T的转换,导致第217位的缬氨酸被天冬氨酸替换(D217V)。这个突变预测会轻微提高葡萄糖激酶的稳定性并有利于扭曲(来源:J:189544)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
4357928
C3HeB/FeJ
Chemically induced
单点
显性
1
11
2
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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