Initial targeting introduced a 17-bp mutation into exon 13 leaving a loxP site in the receding intron (between exons 12 and 13). A neomycin-thymidine kinase dual selection cassette flanked by frt sites with a single loxP was inserted between exons 3 and 4. Flp-mediated recombination removed the selection cassette. This mutation generates a frame-shift resulting in the insertion of an additional 48 aa at residue 385 and a premature stop codon and truncated protein. (J:226703)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count