CRISPR/Cas9 mediated mutagenesis created an A to C change resulting in a serine substitution for tyrosine at amino acid 381. mRNA level in liver tissue is not affected and protein level is similar to wild-type. (J:262204)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count