A loxP site was inserted upstream of exon 1 and a floxed neo cassette downstream of exon 2. Insertion was confirmed by Southern blot analysis. Cre-mediated recombination can remove the first 2 exons and result in an absence of transcript, as confirmed by RT-PCR. (J:100706)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count