A PGK-neomycin gene was inserted in exon 1 near the 3' end. This results in a truncated protein product. mRNA transcripts were lacking in homozygotes and the absence of protein was confirmed immunologically. (J:86895)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count