CRISPR/Cas9 technology, using an sgRNA (targeting TCACAAAACTCTCCATCGTC and ATTGGATGGGGATGTCAAGG), generated a 28 bp deletion (GACATCCCCATCCAATGACTTCACAAAA, GRCm39:chr17:32230208-32230235) in exon 5, leading to a frameshift and premature stop codon (p.Ser167Argfs*19). Western blot analysis confirmed absence of protein. (J:303558)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count