Phenotypes Associated with This Genotype

Genotype
MGI:5295210

• Allelic Composition: Tg(Thy1-BSCL2*N88S)1Dit/0
• Genetic Background: involves: C57BL/6 * DBA/2

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

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:175537 )

• some mice develop motor impairment at 8 weeks of age expressed as unstable walking and tremor-like movement and all mutants develop motor symptoms by 28 weeks of age that progressively become more severe with age, indicating aprogressive spastic motor deficit

limb grasping ( J:175537 )

• mutants develop an abnormal hindlimb reflex characterized by retraction of the hind legs upon lifting by the tails beginning from 8 weeks of age; all mutants display this reflex by 28 weeks of age

impaired coordination ( J:175537 )

• rotarod test indicated progressive motor impairment, prominent by 24 weeks

decreased grip strength ( J:175537 )

• hanging wire test indicates motor strength becomes progressively weaker from about 16 weeks of age

abnormal gait ( J:175537 )

• footprint test shows irregularly spaced shorter strides and an uneven left-right step pattern indicating gait abnormality

short stride length ( J:175537 )

• footprint test shows irregularly spaced shorter strides

paralysis ( J:175537 )

• at end-stage of disease, mutants are unable to hold their bodies off the ground and develop a swimming-like gait, as they become paralyzed in their limbs

growth/size/body

decreased body weight ( J:175537 )

• body weight of mutants is lower than wild-type mice from 28 weeks onward

mortality/aging

decreased survivor rate ( J:175537 )

• about half the mutants survive for more than a year

premature death ( J:175537 )

• about half of the mutants do not survive for more than a year

muscle

muscular atrophy ( J:175537 )

• neurogenic muscular atrophy

nervous system

abnormal nervous system morphology ( J:175537 )

• mutants exhibit inclusion bodies in the cerebral cortex and spinal cord

• however, no neuronal loss is seen in mutants

gliosis ( J:175537 )

• severe gliosis in the corticospinal tract emanating from upper motor neurons in the cervical spinal cord

astrocytosis ( J:175537 )

• reactive astrocytosis in the spinal cord

axon degeneration ( J:175537 )

• mutants exhibit severe axonal degeneration, irregular axonal morphology and increased number of atrophied axons in both the ventral roots and sciatic nerves

abnormal axonal transport ( J:175537 )

• axonal transport is disrupted in the neurons in the anterior horns of the lumbar spinal cord

cellular

increased endoplasmic reticulum stress ( J:175537 )

• marker staining indicates endoplasmic reticulum stress in motor neurons of anterior horn of spinal cords

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
motor neuron disease		DOID:231		J:175537