Phenotypes Associated with This Genotype

Genotype
MGI:8399278

• Allelic Composition: Tg(AR*121Q)3Als/0
• Genetic Background: involves: C3H/HeJ * C57BL/6J

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

mortality/aging

premature death ( J:214015 )

♂ • lifespan is shortened in males, but not females

growth/size/body

weight loss ( J:214015 )

♂ • males show a decrease of weight beginning at 12 weeks of age which progresses with age

behavior/neurological

decreased grip strength ( J:214015 )

♂ • 13-week-old males show reduced grip strength

abnormal gait ( J:214015 )

♂ • males exhibit gait abnormalities with disease progression

short stride length ( J:214015 )

♂

muscle

abnormal muscle morphology ( J:214015 )

♂ • muscle shows increased connective tissue

muscular atrophy ( J:214015 )

♂ • males develop progressive neuromuscular disease

skeletal muscle fiber atrophy ( J:214015 )

♂

muscle weakness ( J:214015 )

♂ • males exhibit onset of motor phenotype characterized by weakness by the time mice show significant weight loss

nervous system

abnormal motor neuron morphology ( J:214015 )

♂ • ventral horn neurons from lumber spinal cord appear smaller, and have reduced neuron soma area and perimeter

♂ • however, no changes in motor neuron numbers are seen

abnormal axon morphology ( J:214015 )

♂ • mice show a shift toward smaller sized axon diameters in L5 motor roots and a decrease in the number of large caliber axons in L5 roots

♂ • however, numbers of motor axons and numbers of large caliber axons are normal prior to the onset of motor neuronopathy

neuronal intranuclear inclusions ( J:214015 )

♂ • muscle shows polyQ-AR protein aggregation in intranuclear inclusions

abnormal spinal cord ventral horn morphology ( J:214015 )

♂ • ventral horn neurons from lumber spinal cord appear smaller, and have reduced neuron soma area and perimeter

abnormal spinal cord motor column morphology ( J:214015 )

♂ • motor axons from the L5 root show excessive spacing of axons in spinal cord

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Kennedy's disease		DOID:0060161	OMIM:313200	J:214015