The CRISPR/Cas9 system and sgRNA 5'-TGTTACTAAGGTAAGTGAGC-3' was used to generate the mice. The CRISPR/Cas9 system generated a 19-base pair deletion of CATCCGGCTCACTTACCTT at g.21298_21278 (NC_000081.6). The mutation is predicted to destroy the exon 2 donor splice site, resulting in the use of an adjacent cryptic site. The resulting transcript would have a 48-bp insertion causing an in-frame insertion of 16 amino acids beginning after amino acid 101 of the protein. (J:274568)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count