The gene was disrupted by the random integration of the pGT1TMpfs gene trap vector into intron 1. The mutation results in the production of a fusion transcript consisting of sequences from exon 1 of Acly and Beta-geo. In heterozygotes, northern and western blot analyses showed an approximately 50% reduction in mRNA and protein expression. (J:88490)
Basic Information
Insertion of gene trap vector
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count