Using an sgRNA (targeting GGGATATCTGTAACACTCC) and an ssODN template (CACTGTCCTTCAGGGTCACCAGGGGTACAAAGTGCTGGCTGTCATAGCCTAGGACGATGGGATATCTGTAATACTCCTGAGCAGGCCAGTGAAGAGGCAGATAAATCCCACCCACTTTCAAAGGAGCAAAATTGGAACCAGATTCCAAAC) with CRISPR/Cas9 technology, cysteine codon 243 (TGT) was changed to tyrosine (TAT) (c.728G>A, p.C243Y). (J:283545)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count