一个基因片段(8.4kb),包括10-12号外显子,被替换为一个1.9kb的磷酸甘油酸激酶-诺卡因抗性(PGK-Neo) cassette。这个变异导致阅读框移位,从而产生一个功能丧失的等位基因。定量RT-PCR和免疫荧光染色确认了纯合突变小鼠肠道中表达缺失的情况。(来源:J:243849)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv
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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