The EUCOMM targeting vector (project ID 45696) introduced an FRT site, lacZ gene, loxP site, neomycin under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site upstream of exon 6. A third loxP site was inserted downstream of exon 7. Exons 6 and 7 correspond to the PR/SET domain. Cre-mediated recombination removed the neomycin resistance cassette and exons 6 and 7, leaving the lacZ reporter intact. (J:205013)
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