The floxed region containing exon 2, which contains the translation initiation codon, and some of the flanking intronic sequence was excised via cre-mediated recombination. An aberrant (smaller than wild-type) ABCG2 transcript, but no ABCG2 protein, is detected. (J:165703)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count