Phenotypes Associated with This Genotype

Genotype
MGI:6280686

• Allelic Composition: Parl^tm1.1Bdes/Parl^tm1.1Bdes
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

premature death ( J:269785 )

• even when bred in specific pathogen-free conditions, mice die before 8 weeks with atrophic muscles, thymus and spleen

nervous system

brainstem hemorrhage ( J:269785 )

• at 7 weeks

spinal hemorrhage ( J:269785 )

• at 7 weeks

microgliosis ( J:269785 )

• extensive

astrocytosis ( J:269785 )

• extensive

neuron degeneration ( J:269785 )

• of Rbfox3+ cells due to necrosis

• however, no overt increase in apoptosis is observed in the brain

encephalopathy ( J:269785 )

• subcortical vacuolar encephalomyelopathy; initially detected at 5 weeks of age in the brainstem that progresses anteriorly to hypothalamus, thalamus, deep cerebellar nuclei, and the cingulate cortex

• however, no neuronal loss is observed in the cortex, hippocampus, and substantia nigra

immune system

abnormal thymus apoptosis ( J:269785 )

thymus atrophy ( J:269785 )

• a few days before death

microgliosis ( J:269785 )

• extensive

spleen atrophy ( J:269785 )

• a few days before death

behavior/neurological

hunched posture ( J:269785 )

• rapidly progressive from the age of 6 weeks

abnormal voluntary movement ( J:269785 )

• rapidly progressive from the age of 6 weeks with lower limb paresis, hunched back and dyspnea

paresis ( J:269785 )

• rapidly progressive from the age of 6 weeks

cellular

abnormal mitochondrial morphology ( J:269785 )

• progressively more severe swollen and abnormal mitochondria in medulla oblongata neurons beginning at 3 weeks of age and corresponding to neuronal loss indicative of necrosis

abnormal mitochondrial crista morphology ( J:269785 )

• in medulla oblongata neurons at 3 weeks of age

abnormal thymus apoptosis ( J:269785 )

abnormal mitochondrial physiology ( J:269785 )

• severely reduced calcium capacity upon progressive loading of mitochondrial purified from the brain without an alteration in mitochondrial depolarization

abnormal respiratory electron transport chain ( J:269785 )

• severe involving CIII and CoQ beginning as early as 3 weeks of age

• however, no increase in reactive oxygen species is detected in the brain

cardiovascular system

abnormal vasculogenesis ( J:269785 )

• vascular proliferation in the brain at advanced stages

internal hemorrhage ( J:269785 )

• at 7 weeks mostly affecting the brainstem and spinal cord

brainstem hemorrhage ( J:269785 )

• at 7 weeks

spinal hemorrhage ( J:269785 )

• at 7 weeks

endocrine/exocrine glands

abnormal thymus apoptosis ( J:269785 )

thymus atrophy ( J:269785 )

• a few days before death

respiratory system

respiratory distress ( J:269785 )

• rapidly progressive from the age of 6 weeks

muscle

muscular atrophy ( J:269785 )

hematopoietic system

abnormal thymus apoptosis ( J:269785 )

thymus atrophy ( J:269785 )

• a few days before death

microgliosis ( J:269785 )

• extensive

spleen atrophy ( J:269785 )

• a few days before death

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leigh disease		DOID:3652	OMIM:256000	J:269785