CRISPR/Cas9 technology targeting the TPR2 domain generated a 200 bp deletion removing the entire exon 7. RT-PCR analysis confirmed the deletion of exon 7 in mRNA from adult testis of homozygotes. Western blot analysis confirmed the expression of the mutant protein but at a reduced level in homozygous testes. (J:345392)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count