The transgene is designed using an approxmately 61 kb fragment of the human PAC clone 215P15. PAC 215P15 contains the promoter and exons 1-7 of the SMN2 gene and the promoter and exons 1-3 of SERF1B gene. The transgene insertion site is located on Chr 18, approximately 635 kb downstream of Gata6 and approximately 84 kb upstream of Rbbp8. (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count