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EN
Exon 23 was replaced with modified sequence in which nucleotide susbtitutions within 3 polypyrimidine tracts and an AG dinucleotide were made in order to disrupt an internal splice acceptor site specific to the beta isoform. Transcript encoding the beta isoform was undetected by RT-PCR analysis of homozygous mutant hepatic mRNA, while wild-type levels of transcript encoding the alpha isoform were observed. Analysis of MEFs reiterated these findings at the protein level. (J:77307)
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
