A neomycin cassette disrupted exon 4 of the gene, introducing stop codons in the three reading frames and truncating the coding sequence immediately after the Ig2 domain. (J:22118)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count