Phenotypes Associated with This Genotype

Genotype
MGI:5473683

• Allelic Composition: Coq9^tm1.1Lcl/Coq9^tm1.1Lcl
• Genetic Background: involves: C57BL/6 * C57BL/6NTac * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:193288 )

• all mice die between 3 and 6 months

liver/biliary system

decreased liver enzyme/coenzyme level ( J:193288 )

• mice exhibit a reduction in coenzyme Q9 and Q10 in the liver compared with wild-type mice

renal/urinary system

decreased kidney enzyme/coenzyme level ( J:193288 )

• mice exhibit a reduction in coenzyme Q9 and Q10 in the kidney compared with wild-type mice

nervous system

gliosis ( J:193288 )

• in the pons and medulla oblongata

astrocytosis ( J:193288 )

• in the pons, cerebellum and encephalon

increased neuron apoptosis ( J:193288 )

• caspase-independent

decreased brain enzyme/coenzyme level ( J:193288 )

• mice exhibit a reduction in coenzyme Q9 and Q10 in the cerebrum and cerebellum compared with wild-type mice

brain vacuoles ( J:193288 )

• in the brain white matter and medulla oblongata

abnormal dendrite morphology ( J:193288 )

• loss of dendrites

spongiform encephalopathy ( J:193288 )

• with neuronal death

demyelination ( J:193288 )

behavior/neurological

abnormal gait ( J:193288 )

• mild alterations in walking at 3 to 6 months

decreased vertical activity ( J:193288 )

• mildly at 3 months

• at 5 months

decreased locomotor activity ( J:193288 )

• at 3 and 5 months

hindlimb paralysis ( J:193288 )

• rapid and progressive between 3 and 6 months

growth/size/body

decreased body size ( J:193288 )

• at 3 months

decreased body weight ( J:193288 )

• at 3 and 6 months

weight loss ( J:193288 )

• at 3 to 6 months

homeostasis/metabolism

decreased heart enzyme/coenzyme level ( J:193288 )

• mice exhibit a reduction in coenzyme Q9 and Q10 in the heart compared with wild-type mice

decreased brain enzyme/coenzyme level ( J:193288 )

• mice exhibit a reduction in coenzyme Q9 and Q10 in the cerebrum and cerebellum compared with wild-type mice

decreased kidney enzyme/coenzyme level ( J:193288 )

• mice exhibit a reduction in coenzyme Q9 and Q10 in the kidney compared with wild-type mice

decreased liver enzyme/coenzyme level ( J:193288 )

• mice exhibit a reduction in coenzyme Q9 and Q10 in the liver compared with wild-type mice

decreased skeletal muscle enzyme/coenzyme level ( J:193288 )

• mice exhibit a reduction in coenzyme Q9 and Q10 in the hind legs skeletal muscle compared with wild-type mice

cardiovascular system

decreased heart enzyme/coenzyme level ( J:193288 )

• mice exhibit a reduction in coenzyme Q9 and Q10 in the heart compared with wild-type mice

cardiac fibrosis ( J:193288 )

cellular

gliosis ( J:193288 )

• in the pons and medulla oblongata

astrocytosis ( J:193288 )

• in the pons, cerebellum and encephalon

increased neuron apoptosis ( J:193288 )

• caspase-independent

abnormal mitochondrial physiology ( J:193288 )

• reduced complex I, mitochondrial respiration and ATP synthesis in the brain

abnormal mitochondrial ATP synthesis coupled electron transport ( J:193288 )

• decreased in the brain

oxidative stress ( J:193288 )

• oxidative damage in the brain

integument

premature hair loss ( J:193288 )

• at P20 to P22, mice exhibit hair loss that is recovered in the next hair growth cycle

muscle

decreased skeletal muscle enzyme/coenzyme level ( J:193288 )

• mice exhibit a reduction in coenzyme Q9 and Q10 in the hind legs skeletal muscle compared with wild-type mice

myopathy ( J:193288 )

• encephalomyopathy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
coenzyme Q10 deficiency disease		DOID:0050730	OMIM:PS607426	J:193288