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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
Tenm4
l7Rn3-5R
Alias:
m4
4323SB
l7Rn3
4323SB
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基础信息
表型特征
文献报道
这种表型突变是在橡树岭国家实验室进行的ENU诱变筛选中发现的。随后发现了一个G到C的转换,导致第2642位氨基酸由Alanine变为Proline。这个突变发生在C端的球形区域,参与了配体结合(来源:J:96673)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
2449641
BALB/cRl
Chemically induced
单点
隐性
1
1
3
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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