| 17993 |
Q9CXZ1 |
NDUS4_MOUSE |
NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial (Complex I-18 kDa) (CI-18 kDa) (Complex I-AQDQ) (CI-AQDQ) (NADH-ubiquinone oxidoreductase 18 kDa subunit) |
DISRUPTION PHENOTYPE |
Reduces the levels of assembled mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) and the rate of Complex I-driven oxygen consumption (PubMed:18396137, PubMed:25594180). Growth is retarded although activity and behavior are not affected during the first 4 weeks (PubMed:18396137). With aging, results in increasing lethargy, rapid deterioration of motor ability, weight loss followed by death (PubMed:18396137). Mitochondrial ultrastructure is normal, although large subsarcolemmal clusters of mitochondria are present in the soleus (PubMed:25594180). Exhibits glial lipid droplets accumulation in the olfactory bulb and vestibular nucleus prior to the onset of the physical signs of neurodegeneration (PubMed:25594180). Treatment with anti-oxidant treatment ameliorates the phenotype (PubMed:25594180). Conditional knockout in Vglut2-expressing glutamatergic neurons leads to decreased neuronal firing, brainstem inflammation, motor and respiratory deficits, and early death (PubMed:31403401). Conditional knockout in GABAergic neurons causes basal ganglia inflammation without motor or respiratory involvement, but accompanied by hypothermia and severe epileptic seizures preceding death (PubMed:31403401). Conditional knockout in cholinergic neurons has no effect on survival, body weight, or motor function (PubMed:31403401). {ECO:0000269|PubMed:18396137, ECO:0000269|PubMed:25594180, ECO:0000269|PubMed:31403401}. |