CRISPR/Cas9 technology was used to induce double-strand breaks within introns 1 and 2 and excise exon 2, resulting in a frameshift and premature stop codon in exon 3. Homozygous mutant mice only express a short form of the protein, consisting of the N-terminus 12 amino acids and lacking the eEF3-like domain and RWD binding domain. (J:287528)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count