Phenotypes Associated with This Genotype

Genotype
MGI:5690061

• Allelic Composition: Tg(LONP1-mt-ND4*,-mCherry*)#Jguy
• Genetic Background: B6(D2)-Tg(LONP1-mt-ND4*,-mCherry*)#Jguy

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

vision/eye

abnormal retina apoptosis ( J:224897 )

• cells in the layer contain condensation of the cytoplasm and nuclear chromatin indicating apoptosis

abnormal optic nerve morphology ( J:224897 )

• optic nerve head swelling as early as 1 month with a gradual increase in swelling that mushrooms into the vitreous cavity by 3 month

• loss of axons

• thick sheaths of myelin surrounding small-caliber axons

abnormal optic disk morphology ( J:224897 )

• optic nerve head tissues are progressively lost by 22 to 26 months

optic nerve atrophy ( J:224897 )

• optic nerve head tissues are progressively lost by 22 to 26 months

• severe at 2 years with reduced diameter

abnormal retina ganglion layer morphology ( J:224897 )

• cells in the layer contain condensation of the cytoplasm and nuclear chromatin indicating apoptosis

retina ganglion cell degeneration ( J:224897 )

thin retina ganglion layer ( J:224897 )

• progressive from 3 to 22 months

• at 5 to 7 months, less pronounced at 8 to 11 months

thin retina inner plexiform layer ( J:224897 )

• progressive from 3 to 22 months

• at 5 to 7 months, less pronounced at 8 to 11 months

retina degeneration ( J:224897 )

abnormal eye electrophysiology ( J:224897 )

• pattern electroretinograms demonstrate a progressive decline in retinal ganglion cell function after 3 months that drops to noise levels by 8 to 11 months

• however, injection with an adenovirus expressing the wild-type human gene rescues visual function at 1 and 3 months

cellular

abnormal retina apoptosis ( J:224897 )

• cells in the layer contain condensation of the cytoplasm and nuclear chromatin indicating apoptosis

abnormal oxidative phosphorylation ( J:224897 )

• reduced complex I activity

abnormal mitochondrial ATP synthesis coupled electron transport ( J:224897 )

• reduced complex I-dependent ATP synthesis

oxidative stress ( J:224897 )

• in the retinal ganglion cell layer

homeostasis/metabolism

abnormal Wallerian degeneration ( J:224897 )

• in the optic nerve

growth/size/body

increased body size ( J:224897 )

cardiovascular system

cardiovascular system phenotype ( J:224897 )

N • severe pathologies are not observed in the brain, heart and skeletal muscle

muscle

muscle phenotype ( J:224897 )

N • severe pathologies are not observed in the brain, heart and skeletal muscle

nervous system

nervous system phenotype ( J:224897 )

N • severe pathologies are not observed in the brain, heart and skeletal muscle

abnormal Wallerian degeneration ( J:224897 )

• in the optic nerve

retina ganglion cell degeneration ( J:224897 )

abnormal optic nerve morphology ( J:224897 )

• optic nerve head swelling as early as 1 month with a gradual increase in swelling that mushrooms into the vitreous cavity by 3 month

• loss of axons

• thick sheaths of myelin surrounding small-caliber axons

abnormal optic disk morphology ( J:224897 )

• optic nerve head tissues are progressively lost by 22 to 26 months

optic nerve atrophy ( J:224897 )

• optic nerve head tissues are progressively lost by 22 to 26 months

• severe at 2 years with reduced diameter

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber hereditary optic neuropathy		DOID:705	OMIM:535000	J:224897