A targeting construct was designed to insert a loxP site flanked STOP cassette into intron 1 and a p.R172H missense mutation (G>A) into exon 5. (J:95316)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count