Phenotypes Associated with This Genotype

Genotype
MGI:5469320

• Allelic Composition: mt-Nd6^m3Dwa
• Genetic Background: B6.129S-mt-Nd6^m3Dwa

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

Swelling and loss of retinal ganglion cell axons in mt-Nd6^m3Dwa mice

cellular

abnormal mitochondrial morphology ( J:192260 )

• mitochondria in retinal ganglion cell axons are hollowed and possess irregular cristae

abnormal cellular respiration ( J:192260 )

• reduced liver mitochondria complex I activity with reduced oxygen consumption

abnormal mitochondrial physiology ( J:192260 )

• reduced liver mitochondria complex I activity with reduced oxygen consumption

• synaptosomes.exhibit reduced complex I activity and increased forward but not reverse reactive oxygen species production

abnormal respiratory electron transport chain ( J:192260 )

• liver mitochondria exhibit increased forward electron flow but lack of reverse electron flow reaction oxygen species production

• synaptosomes exhibit reduced complex I activity and increased forward but not reverse reactive oxygen species production

increased mitochondrial fission ( J:192260 )

• in retinal ganglion cell axons

vision/eye

abnormal retina ganglion cell morphology ( J:192260 )

• axonal swelling and preferential loss of smallest fibers at 14 months of age and more pronounced at 24 months of age

abnormal optic nerve morphology ( J:192260 )

• axonal swelling and preferential loss of smallest fibers at 14 months of age and more pronounced at 24 months of age

decreased a-wave amplitude ( J:192260 )

• reduced A wave amplitude in rods at 14 months of age

decreased b-wave amplitude ( J:192260 )

• reduced B wave amplitude in rods and cones at 14 months of age

abnormal eye electrophysiology ( J:192260 )

• reduced oscillatory potentials at 14 months of age

• however, mice exhibit normal visual responses as assessed by optokinetic analysis

nervous system

decreased myelin sheath thickness ( J:192260 )

• in axons with abnormal mitochondria

abnormal retina ganglion cell morphology ( J:192260 )

• axonal swelling and preferential loss of smallest fibers at 14 months of age and more pronounced at 24 months of age

abnormal optic nerve morphology ( J:192260 )

• axonal swelling and preferential loss of smallest fibers at 14 months of age and more pronounced at 24 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber hereditary optic neuropathy		DOID:705	OMIM:535000	J:192260