A neomycin cassette replaced 3 exons that encode the NADPH ribose and adenine binding sites of the protein (amino acids 1010 - 1144). Western blots of protein extracts of brain, heart, lung, and aorta/vena cava from homozygous mutant mice showed no detectable encoded protein. (J:28778)
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