Exon 28 was replaced with one containing an arginine to histidine substitution at amino acid 1399 (p.R1399H) and a loxP-flanked neomycin resistance cassette was introduced downstream of exon 28. The selection cassette was removed via cre-mediated recombination. (J:295694)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count