Coq2 Knockout mouse models

Coq2 encodes 4-hydroxybenzoate polyprenyltransferase, the mouse ortholog of human COQ2, an inner mitochondrial membrane enzyme that performs the committed prenylation step of coenzyme Q biosynthesis by condensing 4-hydroxybenzoate with the polyisoprenoid tail supplied by PDSS1 and PDSS2, generating the lipophilic intermediate that all downstream complex Q enzymes then modify. Recessive human alleles cause primary coenzyme Q10 deficiency presenting as steroid-resistant nephrotic syndrome, infantile encephalomyopathy and retinopathy, and a disputed association with multiple system atrophy has driven interest in heterozygous carrier biology. Because complete loss removes the substrate for every subsequent step, constitutive deletion is severely compromising and conditional nulls are the practical design, with Pax8-Cre or podocin-Cre for renal phenotypes and Nes-Cre or Dat-Cre for neurologic endpoints. No paralog performs this prenylation, so compensation is not a concern, but residual dietary and supplemental coenzyme Q10 uptake confounds rescue experiments; measure tissue CoQ9 and CoQ10 species directly.

Whole body loss of Coq2 gives the clearest readout when the question is whether the gene is required at all. Follow up tissue work can still move to a conditional allele if lethality or compensation appears.