A mutation was generated by inserting a neomycin selection cassette into a Sal I restriction site, which was introduced into the second exon by site-directed mutagenesis. This insertion abrogates the transcription of the gene. (J:216249)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count