RMCE inserted a vector, which contained a CAG promoter driving expression of an HA-tagged human cDNA with an A to G transition that result in the amino acid arginine for histidine at position 1047 (H1047R) preceded by a floxed stop cassette and followed by an IRES2-EGFP, into the locus. (J:173655)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count