在PGK-neomycin抗性 cassette中,它替换了exon 8的一半序列和exon 9全部,这两个区域编码了锌和底物结合位点。使用覆盖整个编码区域的RT-PCR分析显示,纯合突变小鼠的肝脏中存在一个剪接异常的转录本。(J:73713)此外,针对exon 5编码的肽片段,用多克隆抗体进行的 Western blot 检测并未在纯合突变小鼠的血浆中发现蛋白质。(来源:J:73713)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
插入,基因内删除
--
1
--
6

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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