The targeting construct inserted into exon 1 of the mouse gene after the translation initiation codon a floxed transgene containing the human cDNA of isoform 1N4R mutated at P301L with a STOP codon and V5 epitope tag. Flp-mediated recombination removed the FRT-flanked neomycin resistance cassette at the 5' end of the transgene. (J:321949)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count