Almost the entire gene, from the 3' part of exon 1 through exon 12, was replaced with a neomycin resistance gene cassette using homologous recombination. (J:278621)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count