A loxP-flanked neomycin cassette was inserted upstream of exon 8 and a third loxP sequence in intron 8. Cre mediated recombinase removed the neo cassette. Removal of exon 8 will result in frame-shift mutation with truncated protein. (J:212048)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count