这个基因通过同源重组,用诺美西林抗性基因 cassette 替换了5和6号外显子,导致了框架突变和7号外显子的提前终止翻译。在纯合突变动物的棕色脂肪组织样本中,基因表达缺失,通过 Western blot 分析得到了证实。同样的样本还检测了酶活性,纯合小鼠的样本中酶活性极低。(来源:J:78828)

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
1
4

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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