A loxP site was inserted into intron 2 and an FRT site flanked neomycin resistance gene cassette and a second loxP site into intron 4. This creates a conditional-ready allele with exons 3 and 4 floxed. Upon cre-mediated recombination these two exons, coding for the active site of the enzyme, would be deleted, also causing a frameshift in the downstream exons. (J:240765)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count