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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
Flna
Dilp2
Alias:
Gena379
GENA 379
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基础信息
表型特征
文献报道
这种表型突变是在哈沃德的ENU突变筛选中发现的。在第44外显子第7164位发现了一个单个的T到A转换。这导致了蛋白质中第2388位由酪氨酸密码变为终止密码。(来源:J:112274)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
1934627
(C3H/HeN x BALB/cAnN)F1
Chemically induced
单点
半显性
1
22
9
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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