CRISPR/Cas9 genome editing technology was used with two sgRNAs (targeting GGGCATACTCCACTTGGAAA and ACCGCGGTAAGCTGCTCCCC) to generate a 56 base pair deletion encompassing the last three nucleotides of the coding region of exon 1 and intronic sequence at the 5' end of intron 1 (GRCm39:chr18:14839387-14839442). The deletion of the exon/intron 1 splice donor site cause anomalous splicing of the truncated exon 1 to a cryptic exon in intron 1, followed by splicing to exon 2 and onward. (J:279007)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count