CRISPR/cas9 mediated recombination inserted a stop codon on exon 8 after the codon encoding Val304. This mutation truncates the high mobility group (HMG) domain at the C terminus interfering with the intrinsic histone deacetylase (HDAC) activity. (J:247679)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count