The CRISPR/Cas9 system and sgRNA 5'-TGCACTCGCGGACCCTGTCG-3' was used to generate the mice. The CRISPR/Cas9 system generated a 2-base pair deletion at c.231_232del (NM_029098.3). The mutation is predicted to cause a frame-shifted protein product beginning after amino acid 17 of the protein and premature termination after the inclusion of 30 aberrant amino acids. (J:274568)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count