Exons 2 and 3 that encode for the GTPCH active site were flanked by loxP sites and an FRT flanked neo cassette was inserted in intron 2. Flp mediated recombination removed the neo cassette. (J:219813, J:220265)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count