Exon 1, which encodes the signal peptide and the initiating ATG, was replaced with a neomycin stop cassette. No residual functional protein can be generated. (J:156471, J:160547)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count