The targeting construct inserted four mutations including: a T to C in ORF15 (introduces an XbaI site), single A deletion in ORF15 (pathologic frame shift), A to T in ORF15 (removal of stop codon), and 6 bp deletion downstream of ORF15 (introduces I-SceI site). The EEGEGE repeats are changed to a ERKXGR repeat profile. Cre-mediated recombination removed the floxed neomycin resistance cassette. (J:319445)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count