A lox66 site was inserted in intron 4, and, in oposite transcriptional direction, a poly(A) signal, the EGFP fluorescent marker gene, and the 3' part of intron 4 (to include exon 5 splice acceptor). This was followed by a lox71 site. The FRT site flanked neomycin resistance gene cassette that was also inserted was subsequently removed through flp-mediated recombination. This creates a conditional-ready allele where after cre-mediated recombination the sequence between the mutated lox sites is inverted. In that recombined allele exon 4 would splice to the EGFP gene and transcription would terminate at the poly(A) signal downstream of the marker gene, effectively deleting all the downstream exons (5-10). This chimeric transcript lacks sequence for the entire transmembrane and intracellular portions of the encoded receptor, resulting in a complete absence of both long and short isoforms. (J:235209)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count