Cysteine codons 1235 (TGT) and 1260 (TGC) in exon 26 were changed to serine (AGT, AGC) (p.C1235S, p.C1260S) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 25. The neo cassette was removed through subsequent Cre-mediated recombination. The mutations, in the TGFB-binding 8-cysteine domain of the encoded peptide, blocks TGFB binding. (J:279186)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count