CRISPR/Cas9 mediated mutagenesis created a 22 base pair deletion (c77_99del/L23fsX65) resulting in a frameshift in exon 2. CRISPR guides target 5'-TGATGTGAGGAAATACTTT-3' and 5'-GTATTTCCTCACATCAAACT-3'. No difference in transcript level compared to wild-type is seen, however mass spectrometry of parallel reaction monitoring confirmed absence of DEPDC5 peptides indicating a null allele. (J:256299)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count