一段包含功能位点部分启动子和外显子1的基因组片段,通过同源重组技术替换为能被羟氨苄青霉素选择的载体。Northern blot和RNA的RT-PCR分析并未在纯合突变骨骼肌中检测到转录本。对纯合突变ES细胞的 Western blot结果显示,无论在有还是无视黄酸的情况下,都未检测到蛋白质。(来源:J:80843)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
插入,基因内删除
--
1
1
2

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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