An 8.2 kb genomic fragment containing 2.95 kb of the 5' region of the human gene, the complete 2.8 kb coding region, and 2.45 kb of the 3' region was microinjected into a pronucleus of a fertilized NMRI egg. About 50 copies of the transgene were inserted at a single integration site. (J:85169)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count