Phenotypes Associated with This Genotype

Genotype
MGI:4819094

• Allelic Composition: Tg(tetO-NEFL)173.2Jpj/0; Tg(THY1-tTA)177Jpj/0
• Genetic Background: involves: C3H * C57BL/6

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

mortality/aging

mortality/aging ( J:160704 )

N • mice exhibit normal lifespan

nervous system

abnormal innervation pattern to muscle ( J:160704 )

• mice exhibit a loss of innervated neuromuscular junction unlike in wild-type mice

• however, treatment with doxycycline reverses loss of innervation

abnormal neuron morphology ( J:160704 )

• dorsal and ventral root nerves are more fragile than in wild-type mice

abnormal motor neuron morphology ( J:160704 )

• 5% to 10% of lumbar motor neurons exhibit neurofilament heavy polypeptide+ inclusions unlike wild-type cells

abnormal axon morphology ( J:160704 )

• microtubule density in axons is reduced compared to in wild-type cells

• however, mice do not exhibit axon loss and axons contain normal alpha and beta-III tubulin levels and neurofilament density

abnormal neuromuscular synapse morphology ( J:160704 )

• mice exhibit a loss of innervated neuromuscular junction unlike in wild-type mice

• however, treatment with doxycycline reverses loss of innervation

abnormal axonal transport ( J:160704 )

• axonal transport is impaired compared to in wild-type cells

• duration and length of retrograde movement of mitochondria are increased compared to in wild-type cells

• net anterograde excursion length of mitochondria is reduced compared to in wild-type cells

behavior/neurological

behavior/neurological phenotype ( J:160704 )

N • mice exhibit normal performance in a hot plate test

limb grasping ( J:160704 )

• limb clasping is increased 5-fold compared to in wild-type mice

• however, treatment with doxycycline reverses motor coordination defects

impaired coordination ( J:160704 )

• mice travel fewer segments up a vertical pole than wild-type mice

• mice exhibit reduced performance on a rotarod compared with wild-type mice

• however, treatment with doxycycline reverses motor coordination defects

abnormal limb posture ( J:160704 )

• at 6 months, mice exhibit abnormal hind limb posture unlike wild-type mice

muscle

increased skeletal muscle fiber size ( J:160704 )

• gastrocnemius muscle fibers are hypertrophic unlike in wild-type mice

• however, treatment with doxycycline reverses muscle hypertrophy

growth/size/body

growth/size/body region phenotype ( J:160704 )

N • mice exhibit normal weight

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 2E		DOID:0110165	OMIM:607684	J:160704