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This transgene contains a 183-kb fragment of the human beta-globin locus with the codons 41-42 (-TTCT) deletion mutation. The L2 line contains six copies of the transgene. RT-PCR and sequencing indicated the production of a 156-bp product confirming the presence of the 4-bp deletion. In addition, a 118-bp PCR product was also detected and sequencing of this aberrant splicing product indicates a deletion of 38-bp of exon 1 (codons 18-30). (J:97548)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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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References Literature
Title
PMID
Journal
Year
IF
