Exon 4, which contains most of the coding sequence, was deleted after Cre-mediated recombination of flanking loxP sites in the germline. Western blot analysis confirmed the absence of protein expression in liver mitochondria isolated from homozygous mutant mice. (J:279978)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count