Histidine codon 131 (CAC) in the single exon was changed to glutamine (CAG) (p.H131Q) and an FRT site flanked neomycin resistance gene cassette and a loxP site were inserted upstream and second loxP site downstream. The mutation is associated with orofacial clefts (OFCs) in humans. The neo cassette was removed through subsequent flp-mediated recombination. (J:311539)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count