A targeting vector was created to replace exons 21-24 (encoding the pore forming domain of the gene) with an endoplasmic reticulum retention signal (peptide KDEL), an internal ribosome entry site (IRES), a human placental alkaline phosphatase gene (PLAP), and a polyadenylation sequence (pA) followed by an FRT-flanked neomycin resistance cassette. FLP-mediated recombination removed the neo cassette. (J:108343)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count