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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
Tmc1
stitch
Alias:
Tmc1
W554L
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基础信息
表型特征
文献报道
ENU诱导在1661位点发生G到T的突变,导致第554位的色氨酸替换为亮氨酸,位于exon 15。这种改变预测可能影响蛋白质的折叠。在III型纤维细胞,基底到中耳区域的表达降低,但在纯合子小鼠的顶端区域表达增加。(来源:181985)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5314996
C57BL/6
Chemically induced
单点
隐性
1
8
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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