Cysteine codon 118 in exon 3 was changed to serine (c.353G>C) (p.C118S). Cre-mediated recombination removed the floxed neomycin resistance cassette that was inserted into intron 3. (J:223079)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count