The cysteine-rich domain (CRD) in the alternatively spliced N-terminus was disrupted by the creation of a nonsense mutation and an Xba1 site in the exon encoding the CRD. A loxP site flanked neomycin resistance gene cassette was inserted into the intron following the CRD-encoding exon. Germline, cre-mediated recombination removed the loxP-flanked neomycin cassette. (J:60159)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count