5号和6号外显子,包含60个氨基酸,构成了大部分含有EF-hand的氧气供应和离子结合区域,被替换为PGK-neo。4号和7号外显子拼接在一起,产生了缺失5号和6号外显子的突变转录本和蛋白质,通过Northern blot分析、RT-PCR和Western blot得到了验证(来源:J:95901)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
插入,基因内删除
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1
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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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