A neomycin selection cassette was inserted into exon 14 of the gene. Exon 14 encodes amino acids critical for the normal function of both isoforms of the protein. (J:25284)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count