Mouse Genome Informatics
cx
    Tg(tetO-NEFL)173.2Jpj/0
Tg(THY1-tTA)177Jpj/0

involves: C3H * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
N
• mice exhibit normal lifespan (J:160704)

nervous system
• however, treatment with doxycycline reverses loss of innervation
• mice exhibit a loss of innervated neuromuscular junction unlike in wild-type mice
• dorsal and ventral root nerves are more fragile than in wild-type mice
• 5% to 10% of lumbar motor neurons exhibit neurofilament heavy polypeptide+ inclusions unlike wild-type cells
• 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
• mice exhibit a loss of innervated neuromuscular junction unlike in wild-type mice
• however, treatment with doxycycline reverses loss of innervation
• 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
N
• mice exhibit normal performance in a hot plate test (J:160704)
• limb clasping is increased 5-fold compared to in wild-type mice
• however, treatment with doxycycline reverses motor coordination defects
• 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
• at 6 months, mice exhibit abnormal hind limb posture unlike wild-type mice

muscle
• gastrocnemius muscle fibers are hypertrophic unlike in wild-type mice
• however, treatment with doxycycline reverses muscle hypertrophy

growth/size
N
• mice exhibit normal weight (J:160704)

Mouse Models of Human Disease
OMIM IDRef(s)
Charcot-Marie-Tooth Disease, Axonal, Type 2E; CMT2E 607684 J:160704