CRISPR/Cas9-mediated homologous recombination using a synthetic oligodeoxynucleotide created a nucleotide substitution (CCC to AGG) in exon 17 of Plcg2 that results in the amino acid substitution P522R. One additional silent nucleotide exchange within the protospacer region created a StuI restriction site for genotyping purposes. (J:307714)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count