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The insertion of a PGK-neo cassette disrupted exon 1, which is specific to isoforms transcribed in non-erythroid cells. RT-PCR analysis showed a lack of transcript containing exon 1, though the expression of a transcript consisting of exon 3 and downstream sequence was identified. The expression of this aberrant transcript was reported to be driven by the PGK promoter and was putatively responsible for the hepatic enzymatic activity determined in homozygous mutant mice (reduced by 44.7% from wild-type). (J:31572)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
