CRISPR-targeting inserted a floxed STOP cassette into intron 1 and the mutation producing the amino acid substitution of arginine with hsitidine at position 172 (R172H). (J:293217)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count