CRISPR-targeting inserted a loxP site flanked STOP cassette (with splice donor sequences) into intron 1 and a mutation in exon 2 that changes glycine codon 12 to cysteine (p.G12C). (J:293217)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count