The construct targeted to the locus contained a floxed STOP cassette, cDNA with the tryptophan for arginine mutation and a N-terminal HA tag, a 2A self-cleaving linker and GFP gene. The mutation is analogous to the human disease-linked variant (LYP-R620W). (J:201448)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count