A targeting vector was designed using the Osdd vector (providing TK for negative selection) with a 3.4kb left- and 3.5kb right- arm of homology. This vector replaces 1347bp (chr2:52,250,794-52,252,140) including exon 64 with a 2.8kb synthetic cDNA fragment with exon 64+exons 53-64 (and flanking intronic sequence) followed by a neoR positive selection cassette. Flp-mediated recombination removed the neoR casette. (J:331852)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count