Exons 3 and 4 as well as flanking intron containing GC-rich region upstream of exon 3 (2.4 kb total) are replaced with a PGK-neomycin cassette via homologous recombination. This removed the first 117 amino acids of the encoded protein. A truncated protein is expressed at approximately 50% normal levels. (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count