The protion of the gene encoding the metalloprotease-cleavage site was mutated (SSFEKQI to SEEAAAI) preventing the production of the soluble peptide. However, the membrane version is still produced. The floxed neo cassette used for selection purposes was removed by germ line, cre mediated recombination. (J:153501)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count