Phenotypes Associated with This Genotype

Genotype
MGI:5544197

• Allelic Composition: Tg(Thy1-VAPB*P56S,-EGFP)D3Cai/0
• Genetic Background: C57BL/6-Tg(Thy1-VAPB*P56S,-EGFP)D3Cai

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

behavior/neurological

impaired coordination ( J:202148 )

♂ • motor coordination and balance are impaired on the rotarod beginning at 12 months of age

♂ • however, grip strength is normal

short stride length ( J:202148 )

♂ • stride length and stride time are shorter, first detected at 2 months of age and the gait abnormality is persistent without deterioration throughout life

increased vertical activity ( J:202148 )

♂ • mice start to exhibit hyperactivity in vertical movements in the open-field test at 12 months of age

increased locomotor activity ( J:202148 )

♂ • mice start to exhibit hyperactivity in horizontal movements in the open-field test at 12 months of age

growth/size/body

decreased body weight ( J:202148 )

♂ • body weight is less starting at 15 months of age

nervous system

abnormal corticospinal tract morphology ( J:202148 )

♂ • the number of corticospinal motor neurons is decreased at 10 and 18 months of age, but not at 3 months of age

♂ • severe reduction of corticospinal track in the thoracic spinal cord at 12 months of age

abnormal neuron morphology ( J:202148 )

♂ • endoplastic reticulum morphology in cortical neurons is altered, showing large convoluted membranous stacks rather than the normal small individual punctate ones

decreased motor neuron number ( J:202148 )

♂ • the number of corticospinal motor neurons is decreased at 10 and 18 months of age, but not at 3 months of age

♂ • more than 60% of CTIP2-positive corticospinal motor neurons are lost in the motor cortex of 18 month old mice

♂ • loss of corticospinal motor neurons in the cerebral cortex is selective, with no degeneration in layer V pyramidal neurons of the posterior cerebral cortex or in striatal medium spiny neurons

motor neuron degeneration ( J:202148 )

♂ • mice develop progressive degeneration of corticospinal motor neurons but not spinal motor neurons

abnormal synaptic bouton morphology ( J:202148 )

♂ • the length of the longest axis of C-boutons of spinal motor neurons is increased

abnormal nervous system physiology ( J:202148 )

♂ • intensity of L5 ventral root discharges at all stimulus levels are decreased in spinal cords of P10-P11 mice and the intensity of spontaneous rhythmic discharges in disinhibited spinal cords is reduced, indicating that C-bouton-mediated muscarinic receptor function is compromised

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis type 8		DOID:0050752	OMIM:608627	J:202148