Exon 14 was replaced with one in which a point mutation (G to C) results in the amino acid substitution of cysteine with serine at position 1619 (p.C1619S). Cre-mediated recombination removed the loxP site flanked neomycin resistance gene cassette that was also inserted. (J:203482)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count