CRISPR-targeting deleted exon 6. The deletion removed a serine (S208) important for the catalytic function of ABHD2, and resulted in a frameshift and a premature stop codon in exon 7. Western blotting and IHC analysis confirmed the complete absence of protein expression in the ovaries of homozygous mutant mice. (J:322075)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count