PGK-neomycin cassette replaced the entire second exon. This resulted in the deletion of amino acids 9-19. The absence of protein was demonstrated by immunoblotting of extracts from brainstem, periaqueductal gray tissue, spleen, lung, and skin. (J:59162)
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