A lacZ-neomycin cassette was inserted in exon 1 interrupting the initiation codon. Western blot analysis demonstrated the absence of gene product in homozygotes and reduced protein levels in heterozygotes. (J:86056)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count