CRISPR/Cas9 genome editing technology was used to generate a 26-bp deletion in exon 9. The mutation resulted in a frameshift and a premature translation termination codon, which is predicted to result in the production of a truncated protein. Direct sequencing of testis cDNA confirmed the 26-bp deletion in homozygous mutant mice. (J:333195)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count