The beta-geo gene trap was inserted into intron 8. This mutation creates a fusion of the AKAP-Lbc and Brx isoforms with beta-geo that disrupts the Rho-guanine nucleotide exchange factor (GEF) and protein kinase D (PKD) binding domains for these two isoforms. However, the Lbc isoform is normally expressed. Quantitative PCR analysis of neonatal heart and lung RNA revealed that expression of the Brx-9 exon-exon junction is reduced in heterozygous and completely eliminated in homozygous mutant mice. Expression of the E37-38 exon-exon junction is reduced in a dose-dependent manner while expression of the E4-5 exon-exon junction is unaffected. (J:231257)
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