通过同源重组,使用靶向载体替换了exon 3和exon 4的部分区域,以及整个intron 3,用诺美西林抗性基因座。RT-PCR在突变肝脏中未检测到转录。在出生后肝脏的荧光测定中也未检测到蛋白质活性。(来源:J:103558)

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
--
1
2
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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