Phenotypes associated with this allele

• Allele Symbol: Tg(AR*121Q)3Als
• Allele Name: transgene insertion 3, Albert La Spada
• Allele ID: MGI:7767964
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Tg(AR*121Q)3Als/0 Tg(ACTA1-cre)79Jme/0	involves: C3H/HeJ * C57BL/6J * SJL	MGI:8399299
tg2	Tg(AR*121Q)3Als/0	involves: C3H/HeJ * C57BL/6J	MGI:8399278

Genotype
MGI:8399299

cn1

• Allelic Composition: Tg(AR*121Q)3Als/0; Tg(ACTA1-cre)79Jme/0
• Genetic Background: involves: C3H/HeJ * C57BL/6J * SJL

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

nervous system

nervous system phenotype ( J:214015 )

♂N • neuromuscular pathology is minimal and limited, with normal size of ventral horn neurons, normal spacing of motor axons in the spinal cord and normal sized axons, and rescue of motor neuron axon degeneration that is seen in single Tg(AR*121Q)3Als hemizygous mice

neuronal intranuclear inclusions ( J:214015 )

♂ • insoluble, aggregated AR protein (AR intranuclear inclusion formation) is seen in the brain

♂ • however, polyQ-AR protein aggregation in intranuclear inclusions in muscle is not seen

behavior/neurological

behavior/neurological phenotype ( J:214015 )

♂N • mice do not exhibit motor phenotypes, with improved grip strength, gait performance, and front limb stride length compared to single Tg(AR*121Q)3Als hemizygous males

mortality/aging

mortality/aging ( J:214015 )

♂N • mice exhibit normal survival

muscle

muscle phenotype ( J:214015 )

♂N • mice do not exhibit muscle pathology

Genotype
MGI:8399278

tg2

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

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