A targeting vector was designed to knock-in the c.19097G>T (p.Ser6366Ile) missense variant into exon 106 and an FRT-flanked MC1-neomycin resistance cassette upstream of this exon. The neomycin selection cassette was removed via flp-mediated recombination. (J:291849)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count