A PGK-neomycin resistance cassette replaced 6.2 kb of sequence including the first two exons, which encode the translation initiation codon, the signal peptide, and ~30% of the extracellular domain. (J:30426)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count