Phenotypes Associated with This Genotype

Genotype
MGI:5285207

• Allelic Composition: Tg(Thy1-HSPB1*S135F)#Lvdb/0
• Genetic Background: involves: FVB/N

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

behavior/neurological

limb grasping ( J:174508 )

• limb clasping is observed when mutants are suspended by the tail

impaired coordination ( J:174508 )

• mutants start to show impaired behavior on an accelerating rotarod starting at 6 months of age and progressive worsening over time

decreased grip strength ( J:174508 )

• progressive decline in grip strength of all paws

abnormal gait ( J:174508 )

• mutants show hesitations in placing their paws and have increased hindpaw angles and decreased hindpaw print areas

short stride length ( J:174508 )

• mutants exhibit a disturbed gait from 6 months of age, needing on average twice the number of step cycles to cross the walkway than controls, resulting in a 50% reduction of stride length

increased thermal nociceptive threshold ( J:174508 )

• mutants exhibit increased response latencies in the hot-plate test with age

muscle

abnormal gastrocnemius morphology ( J:174508 )

• gastrocnemius muscle has less acetylcholine receptor clusters per terminal axon

skeletal muscle fiber atrophy ( J:174508 )

• mutants exhibit atrophic muscle fibers in the gastrocnemius muscle accompanied by pyknotic nuclear clumps

nervous system

abnormal nervous system morphology ( J:174508 )

• decrease in acetylated alpha-tubulin abundance in peripheral nerves of symptomatic mutants

abnormal motor neuron morphology ( J:174508 )

• motor axonal loss

abnormal sensory neuron morphology ( J:174508 )

• sensorimotor axonal loss

abnormal neuromuscular synapse morphology ( J:174508 )

• mutants exhibit an increase of denervated neuromuscular junctions

abnormal sciatic nerve morphology ( J:174508 )

• decrease in the number of axons in distal parts of the sciatic nerve but not in the proximal parts

abnormal action potential ( J:174508 )

• mutants exhibit a decrease in peak-to-peak amplitude of compound muscle action potentials (CMAPs) at 8 months of age

• from 6 months of age, mutants show a decrease in baseline-to-peak amplitude of sensory nerve action potentials (SNAPs), however SNAP latencies are unaltered, indicating that sensory loss is due to an axonal neuropathy

abnormal axonal transport ( J:174508 )

• axonal transport of mitochondria in dorsal root ganglion is disturbed

limbs/digits/tail

abnormal gastrocnemius morphology ( J:174508 )

• gastrocnemius muscle has less acetylcholine receptor clusters per terminal axon

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease axonal type 2F		DOID:0110163	OMIM:606595	J:174508