The AGT codon for serine 724 residue within exon 17 was substituted with the GCT codon for alanine. An FRT-flanked neomycin cassette was inserted downstream of exon 17 and was removed via flp-mediated recombination. (J:325540)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count