Using one sgRNA and CRISPR/Cas9 technology, 17 nucleotides (TCAAATATTGGGACCGA in NM_054066) were deleted from exon 5. Any potential C-terminally truncated peptide expressed from this allele would lack most functional domains. (J:243414)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count