在exon 10上游插入了敲除型新霉素抗性基因座。exon 11被替换为删除了TG序列的改良版本。这种突变模拟了纳佐斯病患者发现的突变,导致exon 12处产生早停密码子。通过Flp介导的重组,去除了选择性基因座。RT-PCR证实了转录本表达量的降低。(来源:J:222025)

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
7
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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