CRISPR/Cas9 technology generated a 1 bp insertion resulting in a frameshift allele in constitutively spliced exon 28 of 36, c.4385dupA; p.Asp1462GlufsTer15. (J:341546)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count