The transgene consists of a 17.8 Kb BspH1 subfragment of Human cosmid c110H8. The 17.8 Kb fragment contains all of the FLII coding seqeunces and approximately 3.5 kb of upstream genomic DNA (which includes exon 1 of the flanking SMCR7 gene). (J:168970)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count