使用靶向载体,对LXCXE结合位点的I740A、N744A、M748A点突变进行了插入。对22号外显子的测序确认了重组的成功。对突变纤维细胞的分析表明,蛋白质水平与野生型细胞相当。与在生殖细胞中表达Cre重组酶的实验小鼠杂交,去除了载体中包含的 floxed neo。这些替换预计会使LXCXE motif中的Leucine和Cysteine残基与内源性裂隙的紧密度变松。(来源:J:108366, J:151417)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
核苷酸替换
--
1
14
15

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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