Exons 13, 14, and 15 were deleted by cre-mediated recombination of flanking loxP sites. The deleted region encoded the C-terminal transactivation domain that is involved in response to hypoxia, Cri2 recruitment, and efficient nuclear localization. Though a truncated protein consisting was detected, it was reported to be non-functional. (J:85763)
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