编码区域被替换为一个突变版本,第845位由T变为C(导致甲硫氨酸变为苏氨酸的密码子转换),插入了一个内含子和一个带有核定位信号的lacZ基因,后跟着FRT定位的neo cassette,通过同源重组插入。通过Flp介导的重组移除了neo cassette。lacZ表达与内源基因表达同步。纯合子和杂合子小鼠在大脑中显示GJC2阳性斑点减少,突变蛋白在 oligodendrocyte 细胞体上没有典型缝隙连接的免疫标记。(来源:J:174197)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion, Single point
--
1
6
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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