CRISPR/Cas9 technology generated a 4 bp deletion (TTGC, GRCm39:51031159-51031162) in exon 2, leading to a frameshift and premature stop codon (p.Cys51Thrfs*8). (J:303558)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count