Phenotypes Associated with This Genotype

Genotype
MGI:5431238

• Allelic Composition: Tg(Thy1-Sncg)HvP36Putt/?
• Genetic Background: C57BL/6-Tg(Thy1-Sncg)HvP36Putt

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

nervous system

nervous system phenotype ( J:185793 )

N • retinal ganglion cells do not exhibit deterioration or loss despite overexpression of gamma-synuclein

gliosis ( J:185793 )

• gliosis is observed within motor regions of cortex

microgliosis ( J:185793 )

• observed in the trigeminal motor nucleus in affected 12 month old mice

astrocytosis ( J:185793 )

• observed in the trigeminal motor nucleus in affected 12 month old mice

decreased motor neuron number ( J:185793 )

• loss of motor neurons is observed in the trigeminal motor nucleus, but not in the facial and abducens motor nuclei

• neuron loss is observed in select upper and lower motor neuron populations of the motor cortex, and to a lesser degree in the somatosensory regions

• neuron loss is correlated with perikaryal and axonal accumulation of gamma-synuclein, accumulation of detergent-insoluble species and gliosis

abnormal myelin sheath morphology ( J:185793 )

• damage to myelin sheath is observed in substantial numbers of myelinated fibers from the sciatic nerve in severely affected mice

neuron degeneration ( J:185793 )

• selective neuronal dystrophy is observed in the cortex

abnormal trigeminal nerve morphology ( J:185793 )

• significant neuron loss is observed in affected 12 month old mice

• mice exhibit high levels of astrogliosis and microgliosis in the trigeminal motor nucleus

abnormal dorsal spinal root morphology ( J:185793 )

• some abnormal myelinated fibers and phagocytes are observed in the dorsal spinal root

• however, the majority of myelinated fibers are similar to control in number and condition

abnormal sciatic nerve morphology ( J:185793 )

• deterioration and loss of myelinated axons in severely affected mice

• reduction in total numbers of myelinated fibers in severely affected mice

• reduced levels of neurofilament proteins, alpha tubulin, and myelin basic protein are observed in severely affected mice

• active Wallerian-like degeneration of the sciatic nerve is observed

• mildly affected mice exhibit slight changes in morphology, but no loss of fibers

abnormal ventral spinal root morphology ( J:185793 )

• deterioration and loss of myelinated fibers in severely affected mice

• significant decrease in mean myelinated fiber size (49.5%) found in remaining myelinated fibers

• extensive phagocyte infiltration

hematopoietic system

microgliosis ( J:185793 )

• observed in the trigeminal motor nucleus in affected 12 month old mice

immune system

microgliosis ( J:185793 )

• observed in the trigeminal motor nucleus in affected 12 month old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis type 1		DOID:0060193	OMIM:105400	J:185793