A random insertion of a transgene expressing Flp recombinase under the control of a human beta-actin promoter resulted in the mutation. Exon 1 and flanking sequence are deleted and replaced with two head-to-tail copies of the transgene. RT-PCR analysis on olfactory epithelium and limb tissue of homozygous mice revealed that this mutation results in the loss of transcript expression only in the limb. The authors propose that the use of two promoters in the gene can account for the partial loss, and that the mutation affects only one of these promoters. (J:59288, J:74965, J:86221)
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