The targeting construct introduced upstream of exon 2 a loxP site, wild-type cDNA, SV40 polyadenylation sequence, loxP site and selection cassette. Cre-mediated recombination removed the inserted expressed sequence but left the selection cassette intact disrupting the endogenous gene open reading frame. (J:272570)
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