An alanine at the extreme C-terminus was introduced into exon 15. A silent restriction enzyme site was also introduced and a loP-flanked neomycin resistance gene was inserted upstream of exon 15. The neomycin cassette was deleted via cre-mediated recombination. (J:266803)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count