CRISPR-targeting of exon 2 generated 4 different deletion alleles. The pound symbol (#) is used when alleles are pooled. Western blot analysis confirmed the absence of protein expression in mitochondria. (J:238984)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count