CRISPR/Cas9 mutagenesis was used to create a mutation of a C/G base pair inserted into the coding region right after start codon, disrupting the open reading frame. The guide RNA targeted the coding region sequence 5'-GACATCCCGCCGC-3'. Western blot analysis confirmed that the expression of the encoded protein was ablated. (J:235704)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count