An insertion vector that contained exon 3 and a neomycin selection cassette was inserted into intron 2 of the gene. The duplication of exon 3 caused a frameshift change. (J:15244)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count