Phenotypes associated with this allele

• Allele Symbol: Tg(ATXN3*)84.2Cce
• Allele Name: transgene insertion 84.2, Cemal K Cemal
• Allele ID: MGI:3838155
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Tg(ATXN3*)67.2Cce/0 Tg(ATXN3*)84.2Cce/0	involves: C57BL/6 * CBA	MGI:3838165
tg2	Tg(ATXN3*)84.2Cce/Tg(ATXN3*)84.2Cce	involves: C57BL/6 * CBA	MGI:3838167
tg3	Tg(ATXN3*)84.2Cce/0	involves: C57BL/6 * CBA	MGI:3838166

Genotype
MGI:3838165

cx1

• Allelic Composition: Tg(ATXN3*)67.2Cce/0; Tg(ATXN3*)84.2Cce/0
• Genetic Background: involves: C57BL/6 * CBA

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

growth/size/body

slow postnatal weight gain ( J:76495 )

• mice have slower weight gain with a 28% weight reduction by 48 weeks of age compared to controls

• mice weigh 20% less than controls at weaning and 25% less at 20 weeks of age

weight loss ( J:76495 )

• mice lose weight after 32 weeks of age

behavior/neurological

increased grooming behavior ( J:76495 )

• almost all mice show excessive grooming

limb grasping ( J:76495 )

• some mice clasp fore- and hind-limbs when lifted by the tail by 16 weeks of age

tremors ( J:76495 )

• mice have mild tremors

abnormal gait ( J:76495 )

• mice have a prominent wide gait and a lowered pelvis during grid climbing

decreased locomotor activity ( J:76495 )

• mice are less active and inquisitive than controls

positive geotaxis ( J:76495 )

• mice have no negative geotaxis after 12 weeks of age

nervous system

gliosis ( J:76495 )

• mice have marked gliosis in areas of neuronal loss

neuron degeneration ( J:76495 )

• neuronal degeneration is evident in the cerebellum

Purkinje cell degeneration ( J:76495 )

• 20% of Purkinje cells suffer from dendrite atrophy

neuronal intranuclear inclusions ( J:76495 )

• is observed in >50% of pontine nuclei and >50% of dentate nuclei

axon degeneration ( J:76495 )

• mice have occasional axonal abnormalities and even rarer axonal degeneration

demyelination ( J:76495 )

• mice have a minor degree of de- and re- myelination in the sciatic nerves by 6 month of age

• by 14 months of age, extensive myelin abnormalities exist including demyelinated and thinly myelinated axons, and "onion bulb" formations

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Machado-Joseph disease		DOID:1440	OMIM:109150	J:76495

Genotype
MGI:3838167

tg2

• Allelic Composition: Tg(ATXN3*)84.2Cce/Tg(ATXN3*)84.2Cce
• Genetic Background: involves: C57BL/6 * CBA

growth/size/body

slow postnatal weight gain ( J:76495 )

• mice have slower weight gain with a 40% weight reduction by 35 weeks of age compared to controls

• mice weigh 27% less than controls at weaning and 39% less at 20 weeks of age

behavior/neurological

limb grasping ( J:76495 )

• some mice clasp fore- and hind-limbs when lifted by the tail by 16 weeks of age

tremors ( J:76495 )

• mice have marked tremors

abnormal gait ( J:76495 )

• mice have a prominent wide gait and a lowered pelvis during grid climbing

decreased locomotor activity ( J:76495 )

• mice are less active and inquisitive than controls

positive geotaxis ( J:76495 )

• mice have no negative geotaxis after 12 weeks of age

nervous system

hippocampal neuron degeneration ( J:76495 )

• 30% of dentate neurons are lost in these mice by 12 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Machado-Joseph disease		DOID:1440	OMIM:109150	J:76495

Genotype
MGI:3838166

tg3

• Allelic Composition: Tg(ATXN3*)84.2Cce/0
• Genetic Background: involves: C57BL/6 * CBA

growth/size/body

slow postnatal weight gain ( J:76495 )

• mice have slower weight gain with a 24% weight reduction by 48 weeks of age compared to controls

• mice weigh 12% less than controls at weaning and 22% less at 20 weeks of age

weight loss ( J:76495 )

• mice lose weight after 30 weeks of age

behavior/neurological

hyporesponsive to tactile stimuli ( J:76495 )

• mice have reduced or no response to toe pinches with increasing age

limb grasping ( J:76495 )

• mice clasp fore- and hind-limbs when lifted by the tail

• limb clasping starts at 24 weeks of age with the forelimbs and progresses to all four limbs by 56 weeks of age in 10% of mice

tremors ( J:76495 )

• mice have mild tremors

abnormal gait ( J:76495 )

• mice have a prominent wide gait and a lowered pelvis during grid climbing

decreased locomotor activity ( J:76495 )

• mice are less active and inquisitive than controls

positive geotaxis ( J:76495 )

• mice have no negative geotaxis after 20 weeks of age

nervous system

gliosis ( J:76495 )

• mice have marked gliosis in areas of neuronal loss

neuron degeneration ( J:76495 )

• neuronal degeneration is evident in the cerebellum

Purkinje cell degeneration ( J:76495 )

• Purkinje cell loss is evident

neuronal intranuclear inclusions ( J:76495 )

• is observed in >50% of pontine nuclei and >40% of dentate nuclei

demyelination ( J:76495 )

• at 9 months of age, mice have a minor degree of de- and re- myelination in the sciatic nerves

• thin myelin is also evident in the dorsal root ganglion

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Machado-Joseph disease		DOID:1440	OMIM:109150	J:76495