The CRISPR/Cas9 system and sgRNA 5'-AATGCGAAACATGGTGGATC-3' was used to generate the mice. The CRISPR/Cas9 system generated a 1-base pair insertion at c.4179_4180insC (NM_030695.2). The mutation is predicted to cause a frame-shifted protein product beginning after amino acid 1298 of the protein and termination after the inclusion of 6 aberrant amino acids. (J:274652)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count