A floxed neomycin resistance gene and stop signal were inserted in exon 1 about 50 bp upstream of the ATG start codon. Cre excision of the inserted sequence restores gene function. (J:196157)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count