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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
Otc
spf
Alias:
spf
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基础信息
表型特征
文献报道
在exon 4的一个C到A的错义突变,导致His(117)被Asn替换,形成一个功能减弱的等位基因。这种突变在突变小鼠中大约保留了10%的正常肝脏酶活性。(来源:J:8786)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
1856178
Not Specified
Radiation induced
单点
半显性
1
2
31
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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