Phenotypes Associated with This Genotype

Genotype
MGI:7620009

• Allelic Composition: Rab7^em2Rwb/Rab7⁺
• Genetic Background: C57BL/6J-Rab7^em2Rwb/RwbJ

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

cellular

abnormal neuron mitochondrial morphology ( J:346904 )

• Peripheral sensory neurons from heterozygotes have prolonged mitochondria-lysosome contact in the axons but not the soma, with decreased mitochondrial motility and increased mitochondrial density. Electron microscopy of the sciatic nerve axon mitochondria shows normal area, perimeter, and roundness, but decreased circularity, interconnectivity, aspect ratio, and increased mitochondrial branching, consistent with fragmentation of mitochondria.

abnormal lysosome morphology ( J:346904 )

• lysosomes in the soma of the peripheral sensory neurons are larger than normal and lysosomal:mitochondrial contact has increased duration in the axons

abnormal lysosome physiology ( J:346904 )

• increased duration of lysosomal:mitochondrial contact in axons of peripheral sensory nerves

abnormal mitochondrial physiology ( J:346904 )

• decreased mitochondrial motility

nervous system

abnormal neuron mitochondrial morphology ( J:346904 )

• Peripheral sensory neurons from heterozygotes have prolonged mitochondria-lysosome contact in the axons but not the soma, with decreased mitochondrial motility and increased mitochondrial density. Electron microscopy of the sciatic nerve axon mitochondria shows normal area, perimeter, and roundness, but decreased circularity, interconnectivity, aspect ratio, and increased mitochondrial branching, consistent with fragmentation of mitochondria.

abnormal sensory neuron innervation pattern ( J:346904 )

• dramatic decrease in intra-epidermal nerve fiber density

behavior/neurological

decreased mechanical nociceptive threshold ( J:346904 )

• no significant motor deficits in gait, hind-foot grip strength, or rotarod assessment, but heterozygotes show pain hypersensitivity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 2B		DOID:0110159	OMIM:600882	J:346904