CRISPR/cas9 genome editing used a signal guide RNA designed to introduce a 115 nucleotide deletion mutation in exon 10. The deletion is (CTGCTCCTGCTCTAGaaaagctacgtgcc/del115/acgctcatgtttggacagcgGTCAGTATCAGA; lower case nucleotides are exon 10 sequences with flanking intronic DNA in upper case). (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count