The transgene comprises the entire human gene, including the promoter and at least 30 kb of flanking genomic DNA, from the BAC clone 23C20. The number of integrated copies, based on Southern blot analysis, is between between 5 and 10 per diploid genome. Northern blot analysis revealed high levels of transgene-derived mRNA in liver, skin, and spleen and lower levels in lung, heart and testis. (J:79757)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count