A single loxP site was introduced 5' to exon 8 and a loxP-flanked neomycin resistance cassette was inserted 3' to exon 14. This mutation interferes with normal spicing of the encoded transcript. (J:75137)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count