一个诺美西林筛选 cassette 替换了包含19-24号外显子的6kb基因片段,导致编码序列发生内切缺失。对转基因小鼠肺、皮肤和骨骼肌的RNA进行定量RT-PCR分析显示,这个等位基因产生了突变转录本,但相较于野生型,其量大约减少了十倍。对来自转基因小鼠的纤维细胞进行的免疫沉淀和免疫细胞化学实验也证实,产生了比野生型量低的较短蛋白。(来源:J:43199)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
插入,基因内删除
--
1
32
9

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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