The targeting construct introduced into the locus before the translation initiation codon the human sequence with the R1213* (arginine to a stop codon at position 1213) mutation and a C-terminal AcGFP reporter gene following by a polyadenylation sequence and an FRT-flanked neomycin resistance cassette. (J:314141)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count