A BclI site was introduced into exon 4 which replaced the codon for Leucine at residue 215 with a stop codon. The resulting protein is truncated above thre transmembrane domain. A floxed neomycin selection cassette was also inserted in intron 1. (J:144388)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count