The functional cDNA coding sequence is derived from the breakpoint cluster region 1 (bcr-1) isoform transcript of the PML/RARA fusion gene resulting from the characteristic t(15;17)(q22;q11.2-q12) translocation associated with ~90% of human cases of acute promyelocytic leukemia (APML). Expression is targeted specifically to early myeloid-lineage cells by the promoter and 5' regulatory elements of the human cathepsin G gene. The protein product of the fusion gene retains the DNA binding, dimerization and retinoic acid binding domains of the wild-type retinoic acid receptor alpha (RARalpha) protein under control of the regulatory elements of the PML protein. Transgenic line 135 has integrated 4 copies of the transgene. Southern blot analysis of RT-PCR products demonstrates expression in bone marrow; expression in spleen is at the detection limit of RNase protection analysis. (J:77881)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Not Specified
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Insertion
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11

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

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Year
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