Using BAC RP23-64L17 with recombineering, the EGFP cDNA was inserted into the 5' end of exon 2 (the first coding exon) and nucleotides -4386 through -620 (relative to the translation start site) were deleted. The loxP site flanked neomycin resistance gene cassette that was also inserted was removed through subsequent cre-mediated recombination. (J:141145)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count