CRISPR-targeting inserted a loxP site flanked STOP cassette into intron 1 and a mutation in exon 2 that changes glycine codon 12 to aspartic acid (p.G12D). (J:293217)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count