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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
Atp2b2
m1Mae
Alias:
T692K
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基础信息
表型特征
文献报道
在exon 13的第2075位,有一个C到A的转换变异,导致第629位的Thr被Lys替换。这种突变在用于生成Ppargtm2Mae小鼠品系的YTC-1细胞中发现,但不在生成另一品系的YTC-2细胞中发现。(来源:J:110607)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3641249
129S6/SvEvTac
Spontaneous
单点
--
1
3
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
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